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{
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{
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{
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{
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},
"entity_type": "str",
"entity_name": "CNBP_CCTG",
"confidence_level": "2",
"penetrance": null,
"publications": [],
"evidence": [
"Expert Review Amber",
"NHS GMS",
"Expert list"
],
"phenotypes": [
"Myotonic dystrophy 2, OMIM:602668",
"Myotonic dystrophy type 2, MONDO:0011266"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"repeated_sequence": "CAGG",
"chromosome": "3",
"grch37_coordinates": [
128891420,
128891499
],
"grch38_coordinates": [
129172577,
129172656
],
"normal_repeats": 27,
"pathogenic_repeats": 75,
"tags": [
"STR",
"Q1_24_promote_green"
]
}
],
"regions": []
}