Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.Q246*
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FDXR

NM_024417.5:p.Q246*

Associated Papers

FDXR variants cause adrenal insufficiency and atypical sexual development.

Pignatti E et al.

Jci Insight, 2024

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Akcan N et al.

Journal of Clinical Research in Pediatric Endocrinology, 2022

Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.

Shathasivam T et al.

Journal of Cellular and Molecular Medicine, 2010

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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."