Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
Molecules (Basel, Switzerland)
S, Udhaya Kumar UK; Sankar, Srivarshini S; Younes, Salma S; D, Thirumal Kumar TK; Ahmad, Muneera Naseer MN; Okashah, Sarah Samer SS; Kamaraj, Balu B; Al-Subaie, Abeer Mohammed AM; C, George Priya Doss GPD; Zayed, Hatem H
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia.
Molecular Genetics And Metabolism Reports
Ibrahim, Ali Zaki AZ; Thirumal Kumar, D D; Abunada, Taghreed T; Younes, Salma S; George Priya Doss, C C; Zaki, Osama K OK; Zayed, Hatem H
The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study.
Heliyon
Agrahari, Ashish Kumar AK; Pieroni, Enrico E; Gatto, Gianluca G; Kumar, Amit A