Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.G114R
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PRH1

NM_001393989.1:p.G114R

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

Ballmaier M et al.

Blood, 2001

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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."