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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA1

Variant:p.L72P

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PNPLA1

NM_001374623.1:p.L72P

hg38:chr6:36291329 T>C

Associated Papers

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Sun Q et al.

Jama Dermatology, 2022

34851365 (PubMed )

Chanarin-Dorfman Syndrome: A comprehensive review.

Cakmak E et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2021

33455044 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."