Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M152R
Back to variants list

CFTR

NM_000492.4:p.M152R

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.

Izumikawa K et al.

Internal Medicine (tokyo, Japan), 2009

A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.

Ngukam A et al.

Journal of Tropical Pediatrics, 2004

Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.

Fujiki K et al.

Journal of Medical Genetics, 2004

A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.

Naruse S et al.

Pancreas, 2004

Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.

Wong LJ et al.

American Journal of Medical Genetics. Part A, 2003

Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.

Alper OM et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003

Hereditary pancreatitis in Japan: a review of pancreatitis-associated gene mutations.

Nishimori I et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2001

Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10.

Morokawa N et al.

Human Mutation, 2000

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."