Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.A1017T
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NPC1

NM_000271.5:p.A1017T

Associated Papers

Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.

Chiba Y et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2014

Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.

Kannan P et al.

Journal of Biomolecular Structure & Dynamics, 0

36264126 (PubMed )
Supplement: supplement_1.docx
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