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142, 163, 177, 194, 207], 'severity': [33], 'FAP': [35, 70], 'varies': [36], 'greatly': [37], 'with': [38], 'mutation': [40, 144, 183], 'site,': [41], 'both': [43], 'between': [44, 200], 'within': [46], 'families.': [47, 155], 'Using': [48], 'protein': [50], 'truncation': [51], 'test,': [52], 'single': [53, 127], 'strand': [54], 'conformation': [55], 'polymorphism': [56], 'analysis': [57], 'DNA': [59, 175], 'sequencing,': [60], 'we': [61], 'identified': [62], '30': [63, 98], '(75%)': [64], 'mutant': [65], 'alleles': [66], '40': [68], 'unrelated': [69, 140, 154], 'families,': [71, 141], 'a': [73, 180], 'total': [74], '22': [76], 'different': [77], 'APC': [78, 99, 191, 204], 'mutations.': [79], 'Of': [80, 96], 'these,': [81], '18': [82], 'are': [83, 87, 104, 109, 114, 120, 165], 'known': [84], '4': [86], 'novel:': [88], 'c.1797C>A': [89], '(C599X),': [90], 'c.893_894delAC,': [91], '(c.3225T>A;': [92], 'c.3226C>A)': [93], 'c.4526_4527insT.': [95], 'gene': [100, 192], 'mutations,': [101, 106, 159], '5': [102, 112], '(∼17%)': [103, 113], 'nonsense': [105], '17': [107], '(∼57%)': [108], 'small': [110, 115, 161], 'deletions,': [111], 'insertions': [116], '3': [118], '(∼10%)': [119], 'complete': [121], 'deletions.': [122], 'All': [123], 'occurred': [125], 'pedigrees,': [128], 'except': [129], 'those': [130], 'at': [131, 145, 167], 'codons': [132], '1061': [133], '1062,': [135], 'each': [136], 'found': [137, 151], 'two': [139], 'codon': [146], '1309': [147], 'exon': [149], '15,': [150], 'five': [153], 'About': [156], '40%': [157], 'mostly': [160], 'deletions': [162], 'insertions,': [164], 'located': [166], 'repeated': [168], 'sequences;': [169], 'they': [170], 'promote': [171], 'misalignment-mediated': [172], 'errors': [173], 'replication': [176], 'could': [178], 'represent': [179], 'hot': [181], 'spot': [182], 'region.': [184], 'This': [185], 'study': [186], 'enlarges': [187], 'sheds': [195], 'light': [196], 'on': [197], 'correlation': [199], 'site': [202], 'germline': [205], 'manifestations': [209], 'FAP.': [211], '©': [212], '2003': [213], 'Wiley-Liss,': [214], 'Inc.': [215]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2068805976', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 2}, {'year': 2019, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 4}, {'year': 2015, 'cited_by_count': 3}, {'year': 2014, 'cited_by_count': 4}, {'year': 2013, 'cited_by_count': 4}], 'updated_date': '2024-08-14T07:02:36.000868', 'created_date': '2016-06-24'}