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

CONCLUSIONS: Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome.PMID:37186309 | DOI:10.1002/jdn.10264

Source: International Journal of Developmental Neuroscience - May 15, 2023 Category: Neuroscience Authors: Wahid Ullah Muhammad Ilyas Muhammad Tariq Maria Imdad Ikram Ullah Stephanie Efthymiou Muhammad Faheem Muhammad Abbas SYNAPS Study Group Muhammad Aamir Muhammad Nouman Henry Houlden Source Type: research