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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCOLN1

Variant:p.T158fs

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MCOLN1

NM_020533.3:p.T158fs

hg38:chr19:7526827 ACC>N

Associated Papers

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.

Jezela-Stanek A et al.

International Journal of Molecular Sciences, 2020

32604955 (PubMed )

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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."