Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants

• 主要な著者: Xicui Long (著者), Wenyu Xiong (著者), Xuegang Wang (著者), Jia Geng (著者), Mingjun Zhong (著者), Yu Huang (著者), Man Liu (著者), Fengxiao Bu (著者), Jing Cheng (著者), Yu Lu (著者), Huijun Yuan (著者)
• フォーマット: 図書
• 出版事項: BMC, 2024-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background A comprehensive understanding of the genetic basis of rare diseases and their regulatory mechanisms is essential for human molecular genetics. However, the genetic mutant spectrum of pathogenic genes within the Chinese population remains underrepresented. Here, we reported previo...