TRPV4 - Transient receptor potential cation channel, subfamily V, member 4
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Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant Charcot-Marie-Tooth disease type 2C
- Disease-causing germline mutation(s) in Autosomal dominant congenital benign spinal muscular atrophy
- Disease-causing germline mutation(s) in Brachyolmia type 3
- Disease-causing germline mutation(s) in Familial digital arthropathy-brachydactyly
- Disease-causing germline mutation(s) in Metatropic dysplasia type 1
- Disease-causing germline mutation(s) in Parastremmatic dwarfism
- Disease-causing germline mutation(s) in Scapuloperoneal amyotrophy
- Disease-causing germline mutation(s) in Spondyloepiphyseal dysplasia, Maroteaux type
- Disease-causing germline mutation(s) in Spondylometaphyseal dysplasia, Kozlowski type
Assessed
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