Publications:

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

Orphanet Journal Of Rare Diseases

Thoenes, Michaela M; Zimmermann, Ulrike U; Ebermann, Inga I; Ptok, Martin M; Lewis, Morag A MA; Thiele, Holger H; Morlot, Susanne S; Hess, Markus M MM; Gal, Andreas A; Eisenberger, Tobias T; Bergmann, Carsten C; Nürnberg, Gudrun G; Nürnberg, Peter P; Steel, Karen P KP; Knipper, Marlies M; Bolz, Hanno Jörn HJ

Publication Date: 2015-02-10

Variant appearance in text: rs1316607

PubMed Link: 25759012

Variant Present in the following documents:

• Main text
• 13023_2015_Article_238.pdf

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A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

Journal Of The American Society Of Nephrology : Jasn

Weng, Patricia L PL; Sanna-Cherchi, Simone S; Hensle, Terry T; Shapiro, Ellen E; Werzberger, Alan A; Caridi, Gianluca G; Izzi, Claudia C; Konka, Anita A; Reese, Adam C AC; Cheng, Rong R; Werzberger, Samuel S; Schlussel, Richard N RN; Burk, Robert D RD; Lee, Joseph H JH; Ravazzolo, Roberto R; Scolari, Francesco F; Ghiggeri, Gian Marco GM; Glassberg, Kenneth K; Gharavi, Ali G AG

Publication Date: 2009-07

Variant appearance in text: rs1316607

PubMed Link: 19443636

Variant Present in the following documents:

• Main text

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