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Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic condition characterized by significant clinical heterogeneity, ranging from malignant cancers to cognitive deficits. Recent studies have begun to reveal rare genotype–phenotype correlations, suggesting that the specific germlin...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Anastasaki, Corina, Woo, Albert S., Messiaen, Ludwine M., Gutmann, David H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4553714/
https://ncbi.nlm.nih.gov/pubmed/25788518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv103
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