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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNRNPA2B1

Variant:p.G327delFs

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HNRNPA2B1

NM_002137.4:p.G327delFs

hg38:chr7:26192560 CT>C

Associated Papers

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.

Kim HJ et al.

Nature Communications, 2022

35484142 (PubMed )

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