Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.
Joshi G et al.
Journal of Medical Genetics, 2023
An acquired BMF with FANCL gene heterozygous mutation: Case report.
Zhang N et al.
Medicine, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
Thompson AS et al.
Molecular Genetics & Genomic Medicine, 2021
Severe telomere shortening in Fanconi anemia complementation group L.
Shah A et al.
Molecular Biology Reports, 2021
Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?
Heddar A et al.
Human Mutation, 2020
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Donovan FX et al.
Human Mutation, 2020
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