桑格测序
外显子组测序
医学
复合杂合度
遗传学
突变
基因组测序
外显子组
计算生物学
基因
基因组
生物
作者
Rahul Mahajan,Shamsudheen Karuthedath Vellarikkal,Sanjeev Handa,Ankit Verma,R Jayarajan,Anoop Kumar,Dipankar De,Jasbir Kaur,Inusha Panigrahi,Venugopal Satidevi Vineeth,Sridhar Sivasubbu,Vinod Scaria
摘要
Figure S1. Sanger sequencing chromatogram of variant of unknown significance c.5000G>A in Control [G]; Mother of patient 2 [G]; Father of patient 2 [G/A]; Patient 2 [G/A]; CVS [G/A]. Figure S2. Sanger sequencing chromatogram of pathogenic variant c.8329C>T in Control [C]; Mother of patient 2 [C/T]; Father of patient 2 [C]; Patient 2 [C/T]; CVS [C/T]. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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