Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.S976delFs
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NBAS

NM_015909.4:p.S976delFs

Associated Papers

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

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."