Varaico: Literature-Extracted Genetic Variants

Gene:PRDM6
Variant:p.R549Q
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PRDM6

NM_001136239.4:p.R549Q

Associated Papers

Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants.

Stanley HM et al.

American Journal of Medical Genetics. Part A, 2024

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Li N et al.

American Journal of Human Genetics, 2016

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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."