Varaico: Literature-Extracted Genetic Variants

Gene:NUP107
Variant:p.D417_E418Splc
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NUP107

NM_020401.4:p.D417_E418Splc

Associated Papers

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

Huebner A et al.

Endocrine Research, 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."