Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation-Reference-Cited by-同舟云学术

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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

Published:2023-11 Issue:3 Volume:140 Page:107668
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Flowers May,Dickson Alexa,Miller Marcus J.,Spector Elaine,Enns Gregory Mark,Baudet Heather,Pasquali Marzia,Racacho Lemuel,Sadre-Bazzaz Kianoush,Wen Ting,Fogarty Melissa,Fernandez Raquel,Weaver Meredith A.,Feigenbaum Annette,Graham Brett H.,Mao Rong

Funder

National Institutes of Health

National Human Genome Research Institute

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference66 articles.

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2. Disorders of mitochondrial fatty acyl-CoA β-oxidation;Wanders;J. Inherit. Metab. Dis.,1999

3. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project;McHugh;Genet. Med.,2011

4. Executive summary;Watson;Genet. Med.,2006

5. Management of fatty acid oxidation disorders: a survey of current treatment strategies;Solis;J. Am. Diet. Assoc.,2002

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