Varaico: Literature-Extracted Genetic Variants

Gene:HOMER2
Variant:p.L280insFs
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HOMER2

NM_199330.3:p.L280insFs

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

Impact of HOMER2 frameshift extension variant on auditory function and development.

Han E et al.

Journal of Molecular Medicine (berlin, Germany), 2025

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

Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness.

Lu X et al.

Clinical Genetics, 2018

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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."