Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.R873W
Back to variants list

NBAS

NM_015909.4:p.R873W

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

[Clinical features and genetic analysis of three patients with Infantile liver failure syndrome type 2 due to variants of NBAS gene].

Li S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.

Akesson LS et al.

Jimd Reports, 2022

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Rius R et al.

Molecular Genetics and Metabolism, 2019

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."