Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.D91N
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NPC2

NM_006432.5:p.D91N

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.

Traboulsee AL et al.

Human Genetics, 2017

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Wassif CA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf
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