Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K1248N
Back to variants list

ATP7B

NM_000053.4:p.K1248N

Associated Papers

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Li M et al.

Bmc Gastroenterology, 2021

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

Gu YH et al.

Clinical Genetics, 2003

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."