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Visualizing the phenotype diversity: a case study of Alexander disease

Since only a small number of patients have a rare disease, it is difficult to identify all of the features of these diseases. This is especially true for patients uncommonly presenting with rare diseases. It can also be difficult for the patient, their families, and even clinicians to know which one...

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Detalles Bibliográficos
Autores principales: Dohi, Eisuke, Bangash, Ali Haider
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korea Genome Organization 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8510876/
https://www.ncbi.nlm.nih.gov/pubmed/34638175
http://dx.doi.org/10.5808/gi.21016