Varaico: Literature-Extracted Genetic Variants

Gene:RBM19
Variant:p.R821Q
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RBM19

NM_016196.4:p.R821Q

Associated Papers

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.

Saygili S et al.

Clinical Genetics, 2020

Genome-wide characteristics of de novo mutations in autism.

Yuen RK et al.

Npj Genomic Medicine, 2016

27525107 (PubMed )
Supplement: npjgenmed201627-s3.xlsx › Table_S10
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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."