Associated Papers
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Bard AM et al.
American Journal of Medical Genetics. Part A, 2024
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
Bard AM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
33452237 (PubMed )
Supplement: 41439_2020_133_MOESM1_ESM.xlsx › Sheet1
Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.
Wang B et al.
International Journal of Cardiology, 2010
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