ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders. These are rare diseases and their genetic epidemiology of the diseases is unknown. A number of genetic variants in the g...

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Detalhes bibliográficos
Publicado no:Comput Struct Biotechnol J
Main Authors: Mhaske, Aditi, Dileep, K.V., Kumar, Mukesh, Poojary, Mukta, Pandhare, Kavita, Zhang, Kam Y.J., Scaria, Vinod, Binukumar, B.K.
Formato: Artigo
Idioma:Inglês
Publicado em: Research Network of Computational and Structural Biotechnology 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7501406/
https://ncbi.nlm.nih.gov/pubmed/32994893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.csbj.2020.08.021
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