Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.L587insFs
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PC

NM_001040716.2:p.L587insFs

Associated Papers

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.

Barbat B et al.

Human Mutation, 1995

[Current data on the molecular biology of 21-hydroxylase deficiency. Diagnostic applications].

Mornet E et al.

Archives Francaises De Pediatrie, 1992

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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."