Varaico: Literature-Extracted Genetic Variants

Gene:PLVAP
Variant:p.L34P
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PLVAP

NM_031310.3:p.L34P

Associated Papers

Computational analysis of Non-synonymous SNP effects on human PLVAP gene structure and function.

Khatoon M et al.

Journal of Applied Genetics, 2025

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

Stallard L et al.

Human Genetics, 2023

Novel PLVAP Mutation in Protein Losing Enteropathy.

Gorukmez O et al.

Fetal and Pediatric Pathology, 2019

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

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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."