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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRIF1

Variant:p.Y250delFs

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LRIF1

NM_018372.4:p.Y250delFs

hg38:chr1:110952135 TA>T

Associated Papers

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.

Strafella C et al.

Frontiers in Genetics, 2023

37674478 (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."