Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.I237_M240delFs
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CYP21A2

NM_000500.9:p.I237_M240delFs

Associated Papers

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.

Friães A et al.

Molecular Genetics and Metabolism, 2006

[deficiency of growth hormone in children. Re-evaluation after therapeutic completion].

Martins T et al.

Acta Medica Portuguesa, 0

[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].

Vieira A et al.

Acta Medica Portuguesa, 0

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