Associated Papers
High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.
Yildiz S et al.
Molecular Biology Reports, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.
Al-Kafaji G et al.
Plos One, 2023
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Peluso F et al.
Genes, 2021
34202629 (PubMed )
Supplement: genes-12-00962-s001.zip › genes-1252885-supplementary › Table_S4_-_Biallelic_FAT1_variants_20210611.xlsx › Foglio1
FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.
Rossanti R et al.
Cen Case Reports, 2021
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi N et al.
Nature Communications, 2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
30840646 (PubMed )
Supplement: pone.0212228.s004.pdf
FAT1 mutations cause a glomerulotubular nephropathy.
Gee HY et al.
Nature Communications, 2016
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