Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.L319L
Back to variants list

CYP17A1

NM_000102.4:p.L319L

Associated Papers

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.

Graves LE et al.

Frontiers in Endocrinology, 2025

Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.

Gao J et al.

Frontiers in Pediatrics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."