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: NARS2: 121G>A; Gly41Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Human aminoacyl-tRNA synthetases in diseases of the nervous system.

Rna Biology

Ognjenović, Jana J; Simonović, Miljan M

Publication Date: 2018

Variant appearance in text: NARS2: G41R

PubMed Link: 28534666

Variant Present in the following documents:

• Main text

View BVdb publication page