Associated Papers
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 2025
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
Mhaske A et al.
Computational and Structural Biotechnology Journal, 2020
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
de Gemmis P et al.
Metabolic Brain Disease, 2017
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