Varaico: Literature-Extracted Genetic Variants

Gene:C4B
Variant:p.P483S
Back to variants list

C4B

NM_001002029.4:p.P483S

Associated Papers

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Concolino P et al.

Molecular Diagnosis & Therapy, 2023

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."