Varaico: Literature-Extracted Genetic Variants

Gene:NUP37
Variant:p.N34S
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NUP37

NM_024057.4:p.N34S

Associated Papers

A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.

Henderson JM et al.

Clinical Genetics, 2001

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM et al.

Clinical Genetics, 2001

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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."