Varaico: Literature-Extracted Genetic Variants

Gene:PLXNC1
Variant:p.R727Q
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PLXNC1

NM_005761.3:p.R727Q

Associated Papers

Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.

Nishioka M et al.

Molecular Psychiatry, 2023

37248276 (PubMed )
Supplement: 41380_2023_2096_MOESM2_ESM.xlsx › TableS5

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

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nishioka M et al.

Nature Communications, 2021

34145229 (PubMed )
Supplement: 41467_2021_23453_MOESM4_ESM.xlsx › Supplementary_Data_1

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP et al.

European Journal of Human Genetics : Ejhg, 2017

28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4
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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."