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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FOCAD

Variant:p.T283_C286delFs

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FOCAD

NM_001375567.1:p.T283_C286delFs

hg38:chr9:20770178 AACTGGTGAATG>A

Associated Papers

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.

Lee S et al.

European Journal of Human Genetics : Ejhg, 2023

37407733 (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."