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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA1

Variant:p.E142delFs

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PNPLA1

NM_001374623.1:p.E142delFs

hg38:chr6:36291536 AG>A

Associated Papers

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

Zeng F et al.

Metabolites, 2022

35893253 (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."