A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family
巴基斯坦一个家族中发现一种新的纯合DST变异导致遗传性感觉和自主神经病变。
期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/s41439-025-00330-2
Munir, Asad; Frederiksen, Helen Nabiryo; Ali, Fawad; Shah, Sabawoon; Rashid, Abdur; Oreshkov, Sergey; Khan, Kashif; Shahzeb, Muhammad; Ullah, Inam; Rahman, Hamid Ur; Ullah, Mukhtar; Ansar, Muhammad; Rehman, Atta Ur