ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics

Purpose: Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies of ARG1 variants do not sufficiently distinguish benign from pathogenic variants. Additionally, ongoing discussions of reproduc...

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Bibliographic Details
Main Authors: Jessie M. Cameron, Mayowa Azeez Osundiji, Rory J. Olson, Bukola A. Olarewaju, Andreas Schulze
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Subjects:
ARG1 gene
Arginase deficiency
Birth prevalence
Hyperargininemia
Variant classification
Variant pathogenicity
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424009610

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http://www.sciencedirect.com/science/article/pii/S2949774424009610

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