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P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq

Authors :
Jian Zhao
Nicola Longo
Robert Lewis
Thomas Nicholas
Steven Boyden
Ashley Andrews
Austin Larson
Pinar Bayrak-Toydemir
Lorenzo Botto
Rong Mao
Source :
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100642- (2023)
Publication Year :
2023
Publisher :
Elsevier, 2023.

Subjects

Subjects :
Genetics
QH426-470
Medicine

Details

Language :
English
ISSN :
29497744
Volume :
1
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Genetics in Medicine Open
Publication Type :
Academic Journal
Accession number :
edsdoj.b977fa7a7114434bf88d8f80c09760f
Document Type :
article
Full Text :
https://doi.org/10.1016/j.gimo.2023.100642