Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P955_N956Splc
Back to variants list

ATP7B

NM_000053.4:p.P955_N956Splc

Associated Papers

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table

Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

Huong NTM et al.

Molecular Genetics and Metabolism Reports, 2022

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

Huong NTM et al.

Bmc Medical Genetics, 2018

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Aggarwal A et al.

Annals of Human Genetics, 2013

A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family.

Al-Tobi M et al.

Sultan Qaboos University Medical Journal, 2011

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."