Varaico: Literature-Extracted Genetic Variants

Gene:RPS29
Variant:p.C21Splc
Back to variants list

RPS29

NM_001032.5:p.C21Splc

Associated Papers

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Ziats MN et al.

Pediatric Research, 2020

31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

Lauhasurayotin S et al.

Npj Genomic Medicine, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."