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Gomez, Christopher M.
One or more keywords matched the following items that are connected to
Gomez, Christopher M.
Item Type
Name
Concept
Exome
Academic Article
Clinical exome sequencing: the new standard in genetic diagnosis.
Academic Article
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Academic Article
Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.
Academic Article
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
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Exome