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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Detalles Bibliográficos
Autores principales: Mhaske, Aditi, Dileep, K.V., Kumar, Mukesh, Poojary, Mukta, Pandhare, Kavita, Zhang, Kam Y.J., Scaria, Vinod, Binukumar, B.K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501406/
https://www.ncbi.nlm.nih.gov/pubmed/32994893
http://dx.doi.org/10.1016/j.csbj.2020.08.021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501406/
https://www.ncbi.nlm.nih.gov/pubmed/32994893
http://dx.doi.org/10.1016/j.csbj.2020.08.021

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