Varaico: Literature-Extracted Genetic Variants

Gene:PRRC2B
Variant:p.R1113*
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PRRC2B

NM_013318.4:p.R1113*

Associated Papers

Loss-of-function of RNA-binding protein PRRC2B causes translational defects and congenital cardiovascular malformation.

Das D et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2
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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."