Varaico: Literature-Extracted Genetic Variants

Gene:CHMP1A
Variant:p.R64W
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CHMP1A

NM_002768.5:p.R64W

Associated Papers

Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence.

He T et al.

Frontiers in Neurology, 2023

37789895 (PubMed )
Supplement: Table_1.xlsx › Variants_and_phenotype

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf
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