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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THPO

Variant:p.E204fs

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THPO

NM_000460.4:p.E204fs

hg38:chr3:184372963 C>CN

Associated Papers

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.

Cornish N et al.

Blood Advances, 2020

32150607 (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."