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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDGFRL

Variant:p.A250D

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PDGFRL

NM_001372073.1:p.A250D

hg38:chr8:17628730 C>A

Associated Papers

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Syx D et al.

Disease Markers, 2015

26504261 (PubMed )

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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."