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First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

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Bibliographic Details
Published in:Neurol Genet
Main Authors: La Morgia, Chiara, Caporali, Leonardo, Tagliavini, Francesca, Palombo, Flavia, Carbonelli, Michele, Liguori, Rocco, Barboni, Piero, Carelli, Valerio
Format: Artigo
Language:Inglês
Published: Wolters Kluwer 2019
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6499220/
https://ncbi.nlm.nih.gov/pubmed/31119195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000329
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