Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.D69Splc
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PNPLA1

NM_001374623.1:p.D69Splc

Associated Papers

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.

Youssefian L et al.

Clinical Chemistry, 2021

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Uitto J et al.

Acta Dermato-venereologica, 2020

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Youssefian L et al.

Human Mutation, 2019

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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."