rs267607144
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
|
22526352 |
2012 |
rs267607144
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
|
22702953 |
2012 |
rs387906904
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
|
22702953 |
2012 |
rs387906904
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
|
22526352 |
2012 |
rs267607144
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
|
20037588 |
2010 |
rs387906904
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
|
20037588 |
2010 |
rs267607144
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs387906904
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs876661124
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
|
22526352 |
2012 |
rs876661124
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
|
22702953 |
2012 |
rs876661124
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
|
20037588 |
2010 |
rs267607143
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267607146
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397514494
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|