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

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

Abstract Background Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to infections, and SOPH syndrome with its cardinal sympto...

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Bibliographic Details
Main Authors: Claudia S. Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B. Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cone dystrophy
NBAS
non‐canonical splice site variant
optic atrophy
RNA analysis
SOPH syndrome
Online Access:https://doi.org/10.1002/mgg3.2120

Internet

https://doi.org/10.1002/mgg3.2120

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