rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
|
26695994 |
2015 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.
|
25124979 |
2014 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
First, we assayed a European cohort of ARPKD patients and found T36M was responsible for 13.1% of mutations.
|
21274727 |
2011 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
|
19914852 |
2010 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
|
20413436 |
2010 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
|
15696446 |
2005 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
|
15805161 |
2005 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
|
16199545 |
2005 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
|
16133180 |
2005 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
|
15108281 |
2004 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
|
15108277 |
2004 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
|
12506140 |
2003 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
|
12874454 |
2003 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
|
12846734 |
2003 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
|
11919560 |
2002 |
rs137852944
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
|
11898128 |
2002 |
rs748540413
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
|
29956005 |
2018 |
rs148617572
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
An Ashkenazi founder mutation in the PKHD1 gene.
|
26721323 |
2016 |
rs1554218666
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
|
27225849 |
2016 |
rs200179145
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
rs200391019
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
|
27225849 |
2016 |
rs750730042
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
|
27225849 |
2016 |
rs760222236
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
|
27225849 |
2016 |
rs142107837
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
|
25966130 |
2015 |
rs148617572
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
|
26385851 |
2015 |