Varaico: Literature-Extracted Genetic Variants

Gene:NIPAL2
Variant:p.T114N
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NIPAL2

NM_001321635.2:p.T114N

Associated Papers

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

Lefèvre C et al.

Human Molecular Genetics, 2004

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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."