Further Description of Two Individuals with De Novo P.(glu127lys) Missense Variant in the ASCL1 Gene.
Clinical Genetics（2024）
关键词
ASCL1,basic-helix-loop-helix domain,congenital central hypoventilation syndrome-1,Dysautonomia,Haddad syndrome,Hirschsprung disease,neurocristopathies
AI 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