Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.R342Q
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CYP21A2

NM_000500.9:p.R342Q

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

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.

Klar J et al.

Bmc Medical Genomics, 2020

32586322 (PubMed )
Supplement: 12920_2020_737_MOESM2_ESM.xls › Additional_File_2
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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."