Varaico: Literature-Extracted Genetic Variants

Gene:NIPAL4
Variant:p.I185M
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NIPAL4

NM_001099287.2:p.I185M

Associated Papers

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.

Ballin N 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."