Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.S1178R
Back to variants list

NBAS

NM_015909.4:p.S1178R

Associated Papers

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.

Peters B et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

40433928 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Tabelle1

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Lenz D et al.

Hepatology (baltimore, Md.), 2024

37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Hammann N et al.

Molecular Genetics and Metabolism, 2024

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.

Lenz D et al.

Journal of Clinical Immunology, 2021

Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.

Li W et al.

Bmc Gastroenterology, 2020

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."