Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.M1_R2insFs
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NPC2

NM_006432.5:p.M1_R2insFs

Associated Papers

Global cellular proteo-lipidomic profiling of diverse lysosomal storage disease mutants using nMOST.

Kraus F et al.

Science Advances, 2025

39841834 (PubMed )
Supplement: sciadv.adu5787_tables_s1_to_s7.zip › adu5787_table_s1.xlsx › LSD-Genetic-changes

Global cellular proteo-lipidomic profiling of diverse lysosomal storage disease mutants using nMOST.

Kraus F et al.

Biorxiv : the Preprint Server for Biology, 2024

38585873 (PubMed )
Supplement: media-1.xlsx › LSD-Genetic-changes

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

Seker Yilmaz B et al.

International Journal of Molecular Sciences, 2020

The Spectrum of Niemann-Pick Type C Disease in Greece.

Mavridou I et al.

Jimd Reports, 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."