Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.E142delFs
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NPC2

NM_006432.5:p.E142delFs

Associated Papers

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

Seker Yilmaz B et al.

International Journal of Molecular Sciences, 2020

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

Mahmoud IG et al.

Clinical Genetics, 2019

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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."