Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.Q490*
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NUP62

NM_016553.5:p.Q490*

Associated Papers

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

Villarreal-Salazar M et al.

Genes, 2021

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

Krumbholz M et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006

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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."