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