Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.R136G
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NBAS

NM_015909.4:p.R136G

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

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Lunke S et al.

Nature Medicine, 2023

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

Akesson LS et al.

Jimd Reports, 2022

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