Varaico: Literature-Extracted Genetic Variants

Gene:PRRC2A
Variant:p.R804C
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PRRC2A

NM_004638.4:p.R804C

Associated Papers

De novo variants in DENND5B cause a neurodevelopmental disorder.

Scala M et al.

American Journal of Human Genetics, 2024

38387458 (PubMed )
Supplement: mmc3.xlsx › Foglio1

Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease.

Zhang Q et al.

Heliyon, 2024

38163100 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

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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."