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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.P996delFs

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ALMS1

NM_001378454.1:p.P996delFs

hg38:chr2:73449514 CA>C

Associated Papers

A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.

Zhou C et al.

Molecular Medicine Reports, 2020

32945434 (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."