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: Table2.XLSX › Sheet1
Identification of Key Regions Mediating Human Melatonin Type 1 Receptor Functional Selectivity Revealed by Natural Variants.
Hegron A et al.
Acs Pharmacology & Translational Science, 2021
Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients.
Yang Z et al.
Brain & Development, 2016
[Genetic analysis and genes relating synaptic function for autism spectrum disorder].
Yamagata T et al.
No to Hattatsu = Brain and Development, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
Chaste P et al.
Plos One, 2010
Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls.
Ebisawa T et al.
Neuroscience Letters, 2000
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