Varaico: Literature-Extracted Genetic Variants

Gene:CELA3B
Variant:p.I209V
Back to variants list

CELA3B

NM_007352.4:p.I209V

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.

Masson E et al.

Human Mutation, 2021

Detection of human elastase isoforms by the ScheBo Pancreatic Elastase 1 Test.

Tóth AZ et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2017

Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.

Szabó A et al.

The Journal of Biological Chemistry, 2016

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
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."