Autophagy defects caused by TRAPPC4 variant are associated with syndromic intellectual disability Oct. 29, 2019 No Comments
Heterozygous p.Leu47Val variant in HSPD1 causes hypomyelinating leukodystrophy Oct. 29, 2019 No Comments
Identification of first FA-T case caused by homozygous missense variants in UBE2T Oct. 22, 2019 No Comments