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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OGDH

Variant:p.V220V

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OGDH

NM_002541.4:p.V220V

hg38:chr7:44673813 G>C

Associated Papers

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

Lin SJ et al.

Genome Medicine, 2023

38031187 (PubMed )

Supplement: 13073_2023_1258_MOESM3_ESM.xlsx › Table_S2

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