Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: OSBPL2: 583C>A; Leu195Met

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.

Autophagy

Koh, Young Ik YI; Oh, Kyung Seok KS; Kim, Jung Ah JA; Noh, Byunghwa B; Choi, Hye Ji HJ; Joo, Sun Young SY; Rim, John Hoon JH; Kim, Hye-Youn HY; Kim, Dong Yun DY; Yu, Seyoung S; Kim, Da Hye DH; Lee, Sang-Guk SG; Jung, Jinsei J; Choi, Jae Young JY; Gee, Heon Yung HY

Publication Date: 2022-11

Variant appearance in text: OSBPL2: L195M

PubMed Link: 35253614

Variant Present in the following documents:

• Main text
• KAUP_18_2040891.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: OSBPL2: L195M

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page