Varaico: Literature-Extracted Genetic Variants

Gene:NIPAL4
Variant:p.T132M
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NIPAL4

NM_001099287.2:p.T132M

Associated Papers

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

Diociaiuti A et al.

Dermatology (basel, Switzerland), 2024

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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."