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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP21A2

Variant:p.L66_Q67insFs

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CYP21A2

NM_000500.9:p.L66_Q67insFs

hg38:chr6:32038620 G>GT

Associated Papers

The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.

Zhao Z et al.

Frontiers in Endocrinology, 2022

36866166 (PubMed )

Supplement: Table_1.docx

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