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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLYR1

Variant:p.R378fs

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GLYR1

NM_032569.4:p.R378fs

hg38:chr16:4812236 CCT>N

Associated Papers

Familial congenital heart disease caused by a frameshift variant in glyoxylate reductase 1 homolog (GLYR1).

Liang C et al.

Qjm : Monthly Journal of the Association of Physicians, 2024

38070486 (PubMed )

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