rs587778820
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
|
27637300 |
2016 |
rs201780665
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
|
24498942 |
2014 |
rs587778822
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
|
25186273 |
2014 |
rs1007345781
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
|
23891469 |
2013 |
rs1560079213
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
|
23255504 |
2013 |
rs201780665
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
|
23255504 |
2013 |
rs397515392
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
|
23255504 |
2013 |
rs753580394
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
|
23255504 |
2013 |
rs756235547
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
|
23255504 |
2013 |
rs756235547
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
|
23891469 |
2013 |
rs773801386
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
|
23891469 |
2013 |
rs587778822
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
|
22693285 |
2012 |
rs756235547
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
|
22693285 |
2012 |
rs1560079213
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs397515392
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs397515392
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Umbilical bile staining in a patient with gall-bladder perforation.
|
22693295 |
2011 |
rs577069249
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs587778820
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs587778822
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs753580394
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs756235547
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
rs773801386
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Multinuclear NMR investigations of probe construction materials at 4.7 T.
|
2325550 |
1990 |
rs1210953680
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1275367324
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1285431486
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|