Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy

CHIH-LING CHENCHIEN-NAN LEEYIN-HSIU CHIENWUH-LIANG HWUChang T.-M.NI-CHUNG LEE2022-03-102022-03-1020212227-9067https://www.scopus.com/inward/record.uri?eid=2-s2.0-85121760474&doi=10.3390%2fchildren8121140&partnerID=40&md5=de652cdf6090b36bc8cc1442d2640c0chttps://scholars.lib.ntu.edu.tw/handle/123456789/596949[SDGs]SDG3Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathyjournal article10.3390/children81211402-s2.0-85121760474