Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
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
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing.
Heo WI et al.
Bmc Medical Genetics, 2017
28125976 (PubMed )
Supplement: 12881_2017_368_MOESM1_ESM.pdf
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
Kim M et al.
Plos One, 2017
29281699 (PubMed )
Supplement: pone.0190077.s002.xlsx › Sheet1
Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients.
Kim EJ et al.
Annals of Dermatology, 2011
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