Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.V139L
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CYP21A2

NM_000500.9:p.V139L

Associated Papers

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

Thauvin-Robinet C et al.

European Journal of Human Genetics : Ejhg, 2019

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.

Ginalska-Malinowska M

Developmental Period Medicine, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."