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Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.

Authors :
Ullah, Wahid
Ilyas, Muhammad
Tariq, Muhammad
Imdad, Maria
Ullah, Ikram
Efthymiou, Stephanie
Faheem, Muhammad
Abbas, Muhammad
Aamir, Muhammad
Nouman, Muhammad
Houlden, Henry
Source :
International Journal of Developmental Neuroscience; Jun2023, Vol. 83 Issue 4, p368-373, 6p
Publication Year :
2023

Details

Language :
English
ISSN :
07365748
Volume :
83
Issue :
4
Database :
Complementary Index
Journal :
International Journal of Developmental Neuroscience
Publication Type :
Academic Journal
Accession number :
164115800
Full Text :
https://doi.org/10.1002/jdn.10264