Varaico: Literature-Extracted Genetic Variants

Gene:SCGN
Variant:p.R77C
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SCGN

NM_006998.4:p.R77C

Associated Papers

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.

Akçimen F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40751262 (PubMed )
Supplement: MDS-40-2469-s001.xlsx › Supplementary_Table_1

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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