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

Yaser Rafiq Mir,Ashish Kumar Agrahari, Abhishek Choudhary,Asima Hassan,Atul Kumar Taneja,Juan C. Zenteno,Luis Montes-Almanza,Marta Rusmini,Kazunori Namba, Aaqib Zaffar Banday,Raja A. H. Kuchay

GENE REPORTS（2025）

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关键词

Glutaric aciduria type 1,GCDH,Whole exome sequencing,Molecular dynamics simulation,Mutation analysis,Structural stability,Phenotype-genotype correlation

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