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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPOR

Variant:p.Q474R

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EPOR

NM_000121.4:p.Q474R

hg38:chr19:11378090 T>C

Associated Papers

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Hwa V

Molecular and Cellular Endocrinology, 2021

33122102 (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."