Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.V1165delFs
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NBAS

NM_015909.4:p.V1165delFs

Associated Papers

Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.

Priglinger CS et al.

Molecular Genetics & Genomic Medicine, 2023

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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."