Varaico: Literature-Extracted Genetic Variants

Gene:MPP1
Variant:p.E350E
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MPP1

NM_002436.4:p.E350E

Associated Papers

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight SW et al.

American Journal of Human Genetics, 1999

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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."