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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAP1

Variant:p.K102_T103Splc

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STAP1

NM_012108.4:p.K102_T103Splc

hg38:chr4:67577036 C>T

Associated Papers

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Fouchier SW et al.

Circulation Research, 2014

25035151 (PubMed )

Supplement: 304660r2_online.pdf

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