@dpavot:23086420
Annnotations
PGR-FAL
{"project":"PGR-FAL","denotations":[{"id":"T1","span":{"begin":246,"end":251},"obj":"8898"},{"id":"T2","span":{"begin":104,"end":112},"obj":"HP:0003198"},{"id":"T3","span":{"begin":256,"end":262},"obj":"81846"}],"relations":[{"id":"R1","pred":"false","subj":"T1","obj":"T2"},{"id":"R2","pred":"false","subj":"T3","obj":"T2"}],"text":"Several myotubularins have been genetically linked to human diseases: MTM1 is mutated in the congenital myopathy X-linked centronuclear or myotubular myopathy (XLCNM) and MTMR14 (JUMPY) has been linked to an autosomal form of such disease, while MTMR2 and MTMR13 are mutated in Charcot-Marie-Tooth (CMT) neuropathies."}