Varaico: Literature-Extracted Genetic Variants

Gene:PLVAP
Variant:p.Q330*
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PLVAP

NM_031310.3:p.Q330*

Associated Papers

Beyond IBD: the genetics of other early-onset diarrhoeal disorders.

Stallard L et al.

Human Genetics, 2023

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.

Kurolap A et al.

Journal of Medical Genetics, 2018

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.

Broekaert IJ et al.

Journal of Medical Genetics, 2018

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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."