Varaico: Literature-Extracted Genetic Variants

Gene:PDGFD
Variant:p.R84W
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PDGFD

NM_033135.4:p.R84W

Associated Papers

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.

Zhu N et al.

Genome Medicine, 2021

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Jallades L et al.

Haematologica, 2017

28751561 (PubMed )
Supplement: 2016.160192.JALLADES_SUPPL.pdf
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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."