Varaico: Literature-Extracted Genetic Variants

Gene:GSE1
Variant:p.R418H
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GSE1

NM_014615.5:p.R418H

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS7_het

Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.

Jackson I et al.

European Journal of Human Genetics : Ejhg, 2023

36443465 (PubMed )
Supplement: EMS155735-supplement-Supplemental_tables.xlsx › Table_S4_Ballyhanna_ACMG_classi
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