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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCARB2

Variant:p.Y117delFs

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SCARB2

NM_005506.4:p.Y117delFs

hg38:chr4:76181025 CAT>C

Associated Papers

Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Atasu B et al.

Bmc Neurology, 2022

35346091 (PubMed )

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