Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.R304Q
Back to variants list

ASS1

NM_054012.4:p.R304Q

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Lynch Syndrome-associated Genomic Variants.

Botea R et al.

Journal of Gastrointestinal and Liver Diseases : Jgld, 2024

Next-generation sequencing as a second-tier diagnostic test for newborn screening.

Luo X et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s7.pdf
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."