Varaico: Literature-Extracted Genetic Variants

Gene:VTN
Variant:p.I243T
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VTN

NM_000638.4:p.I243T

Associated Papers

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

34059789 (PubMed )
Supplement: 41423_2021_701_MOESM2_ESM.xlsx › 270

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C et al.

American Journal of Human Genetics, 2012

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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."