Hefan Miao Jiapeng Zhou Qi Yang Fan Liang Depeng Wang Na Ma Bodi Gao Juan Du Ge Lin Kai Wang Qianjun Zhang
10.1186/s41065-018-0069-1
Hereditas
2018 Sep 28;155:32.
g6pc gsd-ia long-read sequencing pgd structural variants wes whole-exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/30279644/
DNA Mutational Analysis Exome Glucose-6-Phosphatase / genetics Preimplantation Diagnosis
DNA Mutational Analysis Exome Glucose-6-Phosphatase / genetics Preimplantation Diagnosis Alleles Child Exons Female Heterozygote Humans Male Pedigree Pregnancy Sequence Deletion G6PC1 protein, human Glucose-6-Phosphatase
PMC6162922
30279644
Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis
2018