Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Fioretti T et al.
Biomedicines, 2024
Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.
Mae K et al.
The Journal of Dermatology, 2023
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Mohamad J et al.
Experimental Dermatology, 2021
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A et al.
Genes, 2021
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.
Fioretti T et al.
Diagnostics (basel, Switzerland), 2020
Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.
Chen YB et al.
Nature Communications, 2016
27713405 (PubMed )
Supplement: ncomms13131-s3.xlsx › All_mutations
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