Varaico: Literature-Extracted Genetic Variants

Gene:HOMER2
Variant:p.L280_E281insFs
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HOMER2

NM_004839.4:p.L280_E281insFs

Associated Papers

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

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."