Additional file 4: Table S4. Phenotypic features of reported individuals with the POLE and POLD1 ED germline pathogenic variants listed in Table 2 and of heterozygous carriers of two additional varian
ABSTRACT Homocystinuria is one of a group of genetic disorders called inborn errors of metabolism. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. Kerato
This project includes a dataset of next generation mate-pair sequencing from four family members, who are carriers of localized complex genomic rearrangements, termed chromothripsis. The genomic DNA f
Objective: Variant non-ketotic hyperglycinaemia (NKH) is a rare disorder characterized by variable clinical, biochemical, and imaging features. The variant form of NKH is rare and characterized by var
The discovery of RNAs (e.g. mRNAs, non-coding RNAs) in sperm has opened the possibility that sperm may function in delivering additional paternal information aside from solely providing the DNA1. Incr
