Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family
对ATP8A2基因中新型可能致病变异c.1286_1288delAGA的影响进行重新评估：一项针对伊朗家族的7年随访研究，结合临床、遗传学和ACMG（美国医学遗传学和医学研究生院）的见解
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70081
Kalayinia, Samira; Hesami, Hamed; Badv, Reza Shervin; Rabbani, Maryam; Rezaei, Zahra; Hosseinkhani, Zohreh; Nikbakht, Sedighe; Sharifi, Ameneh; Akbari, Bahman; Mirab Samiee, Siamak; Mahdieh, Nejat
