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DeCS
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Descriptor English:
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Dysferlin
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Descriptor Spanish:
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disferlina
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Descriptor Portuguese:
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Disferlina
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Synonyms English:
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Fer 1 like Protein 1
Fer-1-like Protein 1
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Tree Number:
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D12.776.210.500.248
D12.776.543.225
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Definition English:
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A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES. |
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History Note English:
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2018
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Allowable Qualifiers English:
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Record Number:
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57102
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Unique Identifier:
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D000073939
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Occurrence in VHL:
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Similar:
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DeCS
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