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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.Q727insFs

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ALMS1

NM_001378454.1:p.Q727insFs

hg38:chr2:73448704 A>AC

Associated Papers

Infant Alstrom syndrome diagnosed by a new gene mutation: a case report.

Ye Y et al.

The Journal of International Medical Research, 2023

37439038 (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."