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160], 'C': [119, 161], '(p.Gln316Pro)': [120], 'exon': [123], '2': [124], 'patients,': [131], 'their': [132, 135], 'mother': [133], 'sisters.': [136], 'This': [137], 'variation': [139], 'was': [140], 'predicted': [141], 'be': [143], 'possibly': [144], 'damaging': [145], 'PolyPhen': [148], 'SIFT': [150], 'prediction': [151], 'software.': [152], 'Although': [153], 'presence': [154], 'same': [157], 'both': [163], 'siblings,': [164, 184], 'they': [165], 'different': [167], 'clinical': [168, 176], 'signs.': [169], 'Based': [170], 'on': [171], "disease's": [173], 'progress,': [174], 'signs': [177], 'aspects': [180], 'between': [181], 'we': [185], 'demonstrate': [186], 'there': [188], 'no': [190], 'correlation': [191], 'genotype–phenotype.': [192]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2191712831', 'counts_by_year': [{'year': 2020, 'cited_by_count': 1}, {'year': 2019, 'cited_by_count': 2}, {'year': 2018, 'cited_by_count': 1}], 'updated_date': '2024-09-19T03:41:55.853607', 'created_date': '2016-06-24'}