Associated Papers
A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature.
Xiangwen W et al.
Molecular Genetics & Genomic Medicine, 2026
A 14-Year-Old Male Patient With Bone Marrow Failure Syndrome, Without Deafness, Caused by a Novel SRP72 Mutation Inherited From His Father: A Case Report.
Sun D et al.
Cureus, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
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
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Translational Control of Secretory Proteins in Health and Disease.
Karamyshev AL et al.
International Journal of Molecular Sciences, 2020
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A et al.
Nature Communications, 2020
32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM5_ESM.xlsx › ST_2_Group_1_families
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
Kirwan M et al.
American Journal of Human Genetics, 2012
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