Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia-Reference-Cited by-同舟云学术

Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia

Published:2020-12 Issue: Volume:25 Page:100645
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Ibrahim Ali Zaki,Thirumal Kumar D.,Abunada Taghreed,Younes Salma,George Priya Doss C.,Zaki Osama K.,Zayed Hatem

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference43 articles.

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4. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia;Baumgartner;Orphanet J. Rare Dis.,2014

5. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies;Stenson;Hum. Genet.,2017

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