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[53, 127], 'anomalies': [54], 'are': [55, 143, 148], 'predominantly': [56], 'present': [57], '1': [60], '2,': [63], 'while': [64], 'hearing': [65], 'loss': [66], 'more': [68, 213], 'pronounced': [69], '2': [72, 84], '3.': [75], 'We': [76, 179], 'performed': [77, 111], 'mutation': [79, 89, 152, 182], 'analysis': [80, 90], 'for': [81, 91, 114, 121], '40': [82], 'patients': [86, 118, 191], 'five': [92], '3': [94], 'patients,': [96], 'previously': [97], 'all': [98], 'mutation-negative,': [100], 'using': [101], 'targeted': [102, 195], 'next-generation': [103], 'sequencing': [104, 108], '(NGS)': [105], 'whole-exome': [107], '(WES)': [109], 'was': [110], 'parallel': [113], 'two': [115, 134], 'patients.': [116], 'Three': [117], 'were': [119, 173], 'analyzed': [120], 'both': [122, 176], 'due': [124], 'to': [125], 'unclear': [126], 'findings.': [128], 'In': [129, 158], 'total': [130], '14': [131], 'could': [137], 'be': [138, 217], 'identified,': [139], 'seven': [140], 'which': [142], 'novel.': [144], 'Splice': [145], 'site': [146], 'alterations': [147], 'most': [150], 'frequent': [151], 'type,': [153], 'followed': [154], 'glycine': [156], 'substitutions.': [157], 'addition,': [159], 'six': [160], 'unknown': [163], 'significance': [164], '(VUS)': [165], 'have': [166], 'found.': [168], 'Identical': [169], 'identified': [174], 'with': [175], 'NGS': [177, 196], 'techniques.': [178], 'expand': [180], 'spectrum': [183], 'show': [193], 'that': [194], 'an': [198, 218], 'efficient': [199], 'cost-effective': [201], 'molecular': [202], 'tool': [203], 'genetic': [206], 'diagnosis': [207], 'syndrome,': [210], 'standardized': [214], 'WES': [215], 'might': [216], 'alternative': [219], 'approach.': [220]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2000992599', 'counts_by_year': [{'year': 2024, 'cited_by_count': 3}, {'year': 2023, 'cited_by_count': 2}, {'year': 2022, 'cited_by_count': 9}, {'year': 2021, 'cited_by_count': 4}, {'year': 2020, 'cited_by_count': 8}, {'year': 2019, 'cited_by_count': 2}, {'year': 2018, 'cited_by_count': 8}, {'year': 2017, 'cited_by_count': 4}, {'year': 2016, 'cited_by_count': 6}, {'year': 2015, 'cited_by_count': 3}], 'updated_date': '2024-09-17T15:13:34.071733', 'created_date': '2016-06-24'}