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: 1298C>T; Pro433Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.

Frontiers In Pediatrics

Brauner, Raja R; Bignon-Topalovic, Joelle J; Bashamboo, Anu A; McElreavey, Ken K

Publication Date: 2021

Variant appearance in text: KMT2D: 1298C>T; P433L; rs759548512

PubMed Link: 34055685

Variant Present in the following documents:

• Main text
• fped-09-641397.pdf

View BVdb publication page