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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.V2731A

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ALMS1

NM_001378454.1:p.V2731A

hg38:chr2:73490151 T>C

Associated Papers

Impaired DNA-binding affinity of novel PAX6 mutations.

Lee S et al.

Scientific Reports, 2020

32080308 (PubMed )

Supplement: 41598_2020_60017_MOESM1_ESM.pdf

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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."