Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.I271_M272del1
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NPC1

NM_000271.5:p.I271_M272del1

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Lysosomal Storage Disorders in Egyptian Children.

Elmonem MA et al.

Indian Journal of Pediatrics, 2016

Mitotic spindle defects and chromosome mis-segregation induced by LDL/cholesterol-implications for Niemann-Pick C1, Alzheimer's disease, and atherosclerosis.

Granic A et al.

Plos One, 2013

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