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bn:05504727n
Noun Named Entity
EL
No term available
EN
Autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34 Wikidata
Relations
Sources
IS A
σπάνια πάθηση
GENETIC ASSOCIATION
EN
POMGNT1
HEALTH SPECIALTY
νευρολογία

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