Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.D104delFs
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NPC2

NM_006432.5:p.D104delFs

Associated Papers

[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].

Morisot C et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2005

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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."