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: 15707A>G; Asn5236Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.

Endocrinology And Metabolism (Seoul, Korea)

Seo, Soo Hyun SH; Kim, Jung Hee JH; Kim, Man Jin MJ; Cho, Sung Im SI; Kim, Su Jin SJ; Kang, Hyein H; Shin, Chan Soo CS; Park, Sung Sup SS; Lee, Kyu Eun KE; Seong, Moon-Woo MW

Publication Date: 2020-12

Variant appearance in text: KMT2D: 15707A>G; Asn5236Ser

PubMed Link: 33397043

Variant Present in the following documents:

• Main text
• enm-2020-756.pdf

View BVdb publication page