Varaico: Literature-Extracted Genetic Variants

Gene:HPSE
Variant:p.M14R
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HPSE

NM_001098540.3:p.M14R

Associated Papers

Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi Jews that stemmed from a distinct founder.

Rosenberg N et al.

Blood, 1997

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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."