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: 9571C>T; Pro3191Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.

Thyroid : Official Journal Of The American Thyroid Association

Nieminen, Taina T TT; Walker, Christopher J CJ; Olkinuora, Alisa A; Genutis, Luke K LK; O'Malley, Margaret M; Wakely, Paul E PE; LaGuardia, Lisa L; Koskenvuo, Laura L; Arola, Johanna J; Lepistö, Anna H AH; Brock, Pamela P; Yilmaz, Ayse Selen AS; Eisfeld, Ann-Kathrin AK; Church, James M JM; Peltomäki, Päivi P; de la Chapelle, Albert A

Publication Date: 2020-03

Variant appearance in text: KMT2D: 9571C>T

PubMed Link: 32024448

Variant Present in the following documents:

• Main text

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