Varaico: Literature-Extracted Genetic Variants

Gene:HOMER2
Variant:p.P278_Q279delFs
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HOMER2

NM_199330.3:p.P278_Q279delFs

Associated Papers

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.

Peng LT et al.

Journal of Clinical Laboratory Analysis, 2026

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Vaché C et al.

European Journal of Human Genetics : Ejhg, 2023

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.

Lachgar M et al.

Genes, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."