Exome sequencing and molecular dynamics simulation characterizes a compound heterozygous GCDH missense variant leading to glutaric aciduria type 1 in a paediatric patient from Jammu and Kashmir, India

• DOI: 10.1016/j.genrep.2024.102092
• Publication Date: 2024-11-19T08:45:27Z
• Authors: Yaser Rafiq Mir; Ashish Kumar Agra...; Abhishek Choudhary; Asima Hassan; Atul Kumar Taneja; Juan C. Zenteno; Luis Montes-Almanza; Marta Rusmini; Kazunori Namba; Aaqib Zaffar Banday; Raja A.H. Kuchay