Varaico: Literature-Extracted Genetic Variants

Gene:HPSE
Variant:p.N442ins13
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HPSE

NM_001098540.3:p.N442ins13

Associated Papers

Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα.

Yamamoto N et al.

Thrombosis Research, 2013

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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."