Associated Papers
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20
Identification of novel non-synonymous variants associated with type 2 diabetes-related metabolites in Korean population.
Park TJ et al.
Bioscience Reports, 2019
31652446 (PubMed )
Supplement: BSR-2019-0078_supp.pdf
Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.
Unknown Author
Nature Genetics, 2016
27399967 (PubMed )
Supplement: NIHMS793138-supplement-Suppl_tables.xlsx › S9a
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