Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.S230fs
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NBAS

NM_015909.4:p.S230fs

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

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.

Carli D et al.

Human Mutation, 2019

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