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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:F5

Variant:p.F696_P698del3

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F5

NM_000130.5:p.F696_P698del3

hg38:chr1:169542995 GAGGTTCAAA>G

Associated Papers

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.

Frederiksen JH et al.

Molecular Genetics & Genomic Medicine, 2024

39548353 (PubMed )

Supplement: MGG3-12-e70026-s001.docx

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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."