About

ATP7Agen is a comprehensive resource of genetic variants in the ATP7A gene. This resource systematically compiles genetic variants in ATP7A gene from literature as well as variant datasets and is further systematically annotated as per the ACMG & AMP guidelines for assessing pathogenicity of genetic variants. This resource would be helpful for clinicians, clinical geneticists and researchers working on pathology of Menkes Disease, X-linked Distal Spinal Muscular Atrophy and Occipital Horn Syndrome.
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Cite this resource:

Aditi Mhaske, Dileep KV, Mukesh Kumar1, Mukta Poojary, Kavita Pandhare, Kam Y. J. Zhang, Vinod Scaria, and Binukumar BK (2020) ATP7A Clinical Genetics Resource - a comprehensive clinically annotated database and resource for genetic variants in ATP7A gene. In Revision (2020)

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Functional Classification of Variants
ACMG Classification of Variants