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Human Disease
nemaline myopathy 7
- Term ID
- DOID:0110934
- Synonyms
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- NEM7
- nemaline myopathy 7, autosomal recessive
- Definition
- A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (2)
- References
- Ontology
- Human Disease ( DOID:0110934 )
- is a type of
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