Varaico: Literature-Extracted Genetic Variants

Gene:ELMOD3
Variant:p.S105G
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ELMOD3

NM_001135022.2:p.S105G

Associated Papers

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Zhang D et al.

Annals of Human Genetics, 2022

35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.

Thongpradit S et al.

Scientific Reports, 2020

32728090 (PubMed )
Supplement: 41598_2020_69633_MOESM1_ESM.pdf
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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."