Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.S19*
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PNPLA1

NM_001374623.1:p.S19*

Associated Papers

Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report.

Li H et al.

Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 2022

[Analysis of PNPLA1 gene mutation in a child with ichthyosis].

Li H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

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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."