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
Genomic characterization of early-stage esophageal squamous cell carcinoma in a Japanese population.
Urabe Y et al.
Oncotarget, 2019
31289612 (PubMed )
Supplement: oncotarget-10-4139-s001.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
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