Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.
LRRC45 的双等位基因变异会损害纤毛发生并导致严重的神经系统疾病
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14663
Radhakrishnan Periyasamy, Quadri Neha, Erger Florian, Fuhrmann Nico, Geist Otilia-Maria, Netzer Christian, Khyriem Ibakordor, Muranjan Mamta, Udani Vrajesh, Yeole Mayuri, Mascarenhas Selinda, Limaye Sanket, Siddiqui Shahyan, Upadhyai Priyanka, Shukla Anju