Varaico: Literature-Extracted Genetic Variants

Gene:CYP39A1
Variant:p.R337H
Back to variants list

CYP39A1

NM_016593.5:p.R337H

Associated Papers

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Arnadottir GA et al.

Nature Communications, 2022

35121750 (PubMed )
Supplement: 41467_2022_28330_MOESM4_ESM.xlsx › Sheet1

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Li Z et al.

Jama, 2021

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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."