Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.T139_S140delins
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PNPLA1

NM_001374623.1:p.T139_S140delins

Associated Papers

Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.

Ahmad F et al.

Molecular Syndromology, 2021

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Esperón-Moldes U et al.

Acta Dermato-venereologica, 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."