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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMACR

Variant:p.P296P

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AMACR

NM_014324.6:p.P296P

hg38:chr5:33989354 C>T

Associated Papers

Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?

Bing H et al.

Frontiers in Medicine, 2022

35783636 (PubMed )

Supplement: Table_1.pdf

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