Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants.
Zellers M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38883771 (PubMed )
Supplement: media-1.pdf
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.
Shang S et al.
Molecular Genetics & Genomic Medicine, 2019
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA
Detection of mutations in COL4A5 in patients with Alport syndrome.
Plant KE et al.
Human Mutation, 1999
The clinical spectrum of type IV collagen mutations.
Lemmink HH et al.
Human Mutation, 1997
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.
Yuan JH et al.
Pain Reports, 0
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0
33851121 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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