ASS1 c.838+2190A>G

Variant ID: 9-133358026-A-G

NM_054012.3(ASS1):c.838+2190A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs12555797
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Polymorphisms in urea cycle enzyme genes are associated with persistent pulmonary hypertension of the newborn.

Pediatric Research
Kaluarachchi, Dinushan C DC; Smith, Caitlin J CJ; Klein, Jonathan M JM; Murray, Jeffrey C JC; Dagle, John M JM; Ryckman, Kelli K KK
Publication Date: 2018-01

Variant appearance in text: rs12555797
PubMed Link: 28609431
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs12555797
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
  • gei-2-2009-023.pdf
View BVdb publication page