Associated Papers
A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay.
Wang Q et al.
Genes & Diseases, 2024
37588200 (PubMed )
Supplement: mmc2.pdf
Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1.
Lin T et al.
Frontiers in Genetics, 2022
35360848 (PubMed )
Supplement: DataSheet1.PDF
Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss.
Al Qahtani NH et al.
Frontiers in Medicine, 2021
34395479 (PubMed )
Supplement: Data_Sheet_2.PDF
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