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Exome sequencing in children with clinically suspected maturity-onset diabetes of the young
Pediatric Diabetes ( IF 3.9 ) Pub Date : 2021-08-13 , DOI: 10.1111/pedi.13257 Mustafa Tosur 1 , Claudia Soler-Alfonso 2 , Katie M Chan 2 , Michael M Khayat 3 , Shalini N Jhangiani 3 , Qingchang Meng 3 , Ahmad Refaey 4 , Donna Muzny 3 , Richard A Gibbs 3 , David R Murdock 3 , Jennifer E Posey 5 , Ashok Balasubramanyam 6 , Maria J Redondo 1 , Aniko Sabo 3
Pediatric Diabetes ( IF 3.9 ) Pub Date : 2021-08-13 , DOI: 10.1111/pedi.13257 Mustafa Tosur 1 , Claudia Soler-Alfonso 2 , Katie M Chan 2 , Michael M Khayat 3 , Shalini N Jhangiani 3 , Qingchang Meng 3 , Ahmad Refaey 4 , Donna Muzny 3 , Richard A Gibbs 3 , David R Murdock 3 , Jennifer E Posey 5 , Ashok Balasubramanyam 6 , Maria J Redondo 1 , Aniko Sabo 3
Affiliation
Commercial gene panels identify pathogenic variants in as low as 27% of patients suspected to have MODY, suggesting the role of yet unidentified pathogenic variants. We sought to identify novel gene variants associated with MODY.
中文翻译：
临床疑似青少年发病的成年型糖尿病儿童的外显子组测序
商业基因组在怀疑患有 MODY 的患者中识别出致病变异的比例低至 27%，这表明尚未确定的致病变异的作用。我们试图鉴定与 MODY 相关的新基因变异。
更新日期：2021-10-19
中文翻译：
临床疑似青少年发病的成年型糖尿病儿童的外显子组测序
商业基因组在怀疑患有 MODY 的患者中识别出致病变异的比例低至 27%，这表明尚未确定的致病变异的作用。我们试图鉴定与 MODY 相关的新基因变异。
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