Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.I445_V446insFs
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MCOLN1

NM_020533.3:p.I445_V446insFs

Associated Papers

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M et al.

Human Molecular Genetics, 2000

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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."