OBO ID: DOID:0110294 |
Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2T | Search Ontology: | |
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Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23768512 | ||
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Ontology: | Human Disease ( DOID:0110294 ) |
OTHER autosomal recessive limb-girdle muscular dystrophy type 2T PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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