Associated Papers
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.
Lombardo B et al.
Translational Psychiatry, 2022
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Naslavsky MS et al.
Nature Communications, 2022
35246524 (PubMed )
Supplement: 41467_2022_28648_MOESM6_ESM.xlsx › SuppData3
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
Bröer S et al.
The Journal of Clinical Investigation, 2008
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