Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group
Article in Biomedical Reports (February 2024)
The most recent citing publications are shown below. View all 19 publications that cite this research output on Dimensions.
A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family
Article in Pakistan Journal of Medical Sciences (February 2024)
A Novel Homozygous Abnormal Splice Variant in the Myoferlin Gene Leading to Floppy Infant Syndrome in a Saudi Family
Article in Journal of Disability Research (November 2023)