Associated Papers
Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.
Perälä M et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2023
37533579 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S1
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Single nucleotide variants c.-13G → C (rs17429833) and c.108C → T (rs72466472) in the CLDN1 gene and increased risk for familial colorectal cancer.
Battagin AS et al.
Gene, 2021
Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.
Kemps PG et al.
The Journal of Pathology. Clinical Research, 2021
32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Bujakowska KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27735924 (PubMed )
Supplement: NIHMS819557-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
Identification of Claudin 1 Transcript Variants in Human Invasive Breast Cancer.
Blanchard AA et al.
Plos One, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1405.506
Population genetics and comparative genetics of CLDN1, a gene involved in hepatitis C virus entry.
Bekker V et al.
Human Heredity, 2009
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer.
Krämer F et al.
Human Genetics, 2000
Select a paper to view details