Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.E151K
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NBAS

NM_015909.4:p.E151K

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

Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.

Díaz-Osorio Y et al.

Journal of Inherited Metabolic Disease, 2025

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