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: KMT2D: 11003C>T; Pro3668Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Novel West syndrome candidate genes in a Chinese cohort.

Cns Neuroscience & Therapeutics

Peng, Jing J; Wang, Ying Y; He, Fang F; Chen, Chen C; Wu, Li-Wen LW; Yang, Li-Fen LF; Ma, Yu-Ping YP; Zhang, Wen W; Shi, Zi-Qing ZQ; Chen, Chao C; Xia, Kun K; Guo, Hui H; Yin, Fei F; Pang, Nan N

Publication Date: 2018-12

Variant appearance in text: KMT2D: Pro3668Leu

PubMed Link: 29667327

Variant Present in the following documents:

• Main text

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