VARIANT: 1302v1 Help
Entry
Name
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
nt06539 Cytoskeleton in muscle cells
Disease
H00604 Deafness, autosomal dominant
H00605 Deafness, autosomal recessive
H02079 Oto-spondylo-megaepiphyseal dysplasia
Reference
Authors
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ
Title
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
Journal
Reference
Authors
Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH
Title
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
Journal
Reference
Authors
Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ
Title
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Journal
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