Novel Pathogenic Variant (c.580C>T) in theCPS1Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

Title
Novel Pathogenic Variant (c.580C>T) in theCPS1Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
Authors
Keywords
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Journal
Annals of Laboratory Medicine
Volume 37, Issue 1, Pages 58
Publisher
Korean Society for Laboratory Medicine (KAMJE)
Online
2016-11-09
DOI
10.3343/alm.2017.37.1.58

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