Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.L183P
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ADAMTS13

NM_139027.6:p.L183P

Associated Papers

Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder.

Wyatt KD et al.

Journal of Pediatric Hematology/oncology, 2021

The α-tocopherol transfer protein is essential for vertebrate embryogenesis.

Miller GW et al.

Plos One, 2012

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M et al.

Pediatric Research, 2008

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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."