Varaico: Literature-Extracted Genetic Variants

Gene:SCGN
Variant:p.R79W
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SCGN

NM_006998.4:p.R79W

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 › HLMS04_het

SCGN deficiency is a risk factor for autism spectrum disorder.

Liu Z et al.

Signal Transduction and Targeted Therapy, 2023

SCGN deficiency results in colitis susceptibility.

Sifuentes-Dominguez LF et al.

Elife, 2019

31663849 (PubMed )
Supplement: elife-49910-fig1-data1.xlsx › Fig_1d
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