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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIEZO1

Variant:p.R2279C

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PIEZO1

NM_001142864.4:p.R2279C

hg38:chr16:88716650 G>A

Associated Papers

Mild erythrocytosis as a presenting manifestation of PIEZO1 associated erythrocyte volume disorders.

Knight T et al.

Pediatric Hematology and Oncology, 2019

31298594 (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."