rs121909486
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
|
9590287 |
1998 |
rs121909486
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
|
9618165 |
1998 |
rs121909486
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
|
9837817 |
1998 |
rs121909486
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
|
11668639 |
2001 |
rs121909486
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
|
10571942 |
1999 |
rs121909488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
|
9837817 |
1998 |
rs121909488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
|
9590287 |
1998 |
rs121909488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
|
10571942 |
1999 |
rs121909488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
|
11668639 |
2001 |
rs121909488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
|
9618165 |
1998 |
rs121909491
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
|
9837817 |
1998 |
rs121909491
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
|
9618165 |
1998 |
rs121909491
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
|
9590287 |
1998 |
rs121909491
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
|
11668639 |
2001 |
rs121909491
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
|
10571942 |
1999 |
rs1245472436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Her clinical course and orthopedic manifestations indicated NPS, and a genetic analysis showed a de novo mutation in the LMX1B gene (c.819 + 1G > A).
|
28335748 |
2017 |
rs324981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus we have confirmed in two additional population-derived samples that the T-allele of the NPSR1 rs324981 polymorphism is associated with increased impulsivity and ADHD-related traits.
|
25744621 |
2015 |
rs121909486
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909491
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1564169730
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167362
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1564143881
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs864621969
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
rs121909488
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909487
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|