Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.S976fs
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NBAS

NM_015909.4:p.S976fs

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

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature.

Khoreva A et al.

Frontiers in Pediatrics, 2020

33042920 (PubMed )
Supplement: Table_1.xlsx › ____1

NBAS mutations cause acute liver failure: when acetaminophen is not a culprit.

Calvo PL et al.

Italian Journal of Pediatrics, 2017

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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."