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Literature summary for 1.4.3.4 extracted from

  • Rodriguez-Revenga, L.; Madrigal, I.; Alkhalidi, L.S.; Armengol, L.; Gonzalez, E.; Badenas, C.; Estivill, X.; Mila, M.
    Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy (2007), Am. J. Med. Genet. A, 143A, 916-920.
    View publication on PubMed

Application

Application Comment Organism
medicine an atypical case of Norrie disease, consisting of a patient harboring a large submicroscopic deletion affecting not only the NDP gene but also the MAOA, MAOB, and EFHC2 genes, is described Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Homo sapiens P21397
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Synonyms

Synonyms Comment Organism
MAO-A
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Homo sapiens