Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.S121_I122Splc
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NPC2

NM_006432.5:p.S121_I122Splc

Associated Papers

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.

Sheth J et al.

Bmc Medical Genetics, 2017

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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."