Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.V446fs
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MCOLN1

NM_020533.3:p.V446fs

Associated Papers

A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.

Mohsenipour M et al.

Bmc Medical Genomics, 2025

41430707 (PubMed )
Supplement: 12920_2025_2271_MOESM1_ESM.xlsx › Sheet1
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