Associated Papers
Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
Tamura N et al.
The Journal of Biological Chemistry, 2021
34688657 (PubMed )
Supplement: mmc1.pdf
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.
Al-Jezawi NK et al.
American Journal of Medical Genetics. Part A, 2017
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
Guo L et al.
Journal of Human Genetics, 2017
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C et al.
American Journal of Human Genetics, 2014
Select a paper to view details