Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.R941H
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NBAS

NM_015909.4:p.R941H

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

Case Report: Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation: a literature review.

He S et al.

Frontiers in Pediatrics, 2025

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s001.xlsx › Feuil2

NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.

Li ZD et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020

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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."