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: 1249G>A; Val417Met
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
Journal Of Cardiovascular Translational Research
Kapplinger, Jamie D JD; Tseng, Andrew S AS; Salisbury, Benjamin A BA; Tester, David J DJ; Callis, Thomas E TE; Alders, Marielle M; Wilde, Arthur A M AA; Ackerman, Michael J MJ
PATH-SCAN: a reporting tool for identifying clinically actionable variants.
Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB