Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P366S
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PAH

NM_000277.3:p.P366S

Associated Papers

Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: Implications for Associated PAH.

Al-Qazazi R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

pTuneos: prioritizing tumor neoantigens from next-generation sequencing data.

Zhou C et al.

Genome Medicine, 2019

31666118 (PubMed )
Supplement: 13073_2019_679_MOESM11_ESM.xlsx › Table_S10.B

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

Andresen BS et al.

Human Molecular Genetics, 1996

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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."