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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POU4F3

Variant:p.A283V

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POU4F3

NM_002700.3:p.A283V

hg38:chr5:146340275 C>T

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )

Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )

Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

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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."