Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndromeJohn E Gorzynski,Shruti Marwaha,Chloe M Reuter,Tanner Jensen, Alexis Ferrasse,Archana Raja,Liliana Fernandez,Elijah Kravets, Jennefer Carter,Devon Bonner,Shirley Sutton, Undiagnosed Diseases Network (UDN),Maura Ruzhnikov, Louanna Hudgins,Paul G Fisher,Jonathan Bernstein, Matthew T Wheeler,Euan A Ashleymedrxiv(2024)引用 0|浏览42AI 理解论文溯源树样例生成溯源树,研究论文发展脉络Chat Paper正在生成论文摘要