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Publikováno v:
BMJ Case Rep
Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the SETX gene have been implicated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa05df083dee21309ff424d9984c94b
https://europepmc.org/articles/PMC8246282/
https://europepmc.org/articles/PMC8246282/