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: KCNQ1: 1691A>G; Asp564Gly

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families

Iranian Biomedical Journal

Amirian, Azam A; Zafari, Zahra Z; Karimipoor, Morteza M; Kordafshari, Alireza A; Dalili, Mohammad M; Saber, Siamak S; Farjam Fazelifar, Amir A; Zeinali, Sirous S

Publication Date: 2019-05

Variant appearance in text: KCNQ1: 1691A>G; D564G

PubMed Link: 30797226

Variant Present in the following documents:

• Main text
• IBJ-23-228.pdf

View BVdb publication page