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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.T409delFs

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ALMS1

NM_001378454.1:p.T409delFs

hg38:chr2:73424891 CA>C

Associated Papers

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

Sathya Priya C et al.

Clinical Genetics, 2015

24400638 (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."