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
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
Heterozygous loss of Srp72 in mice is not associated with major hematological phenotypes.
D'Altri T et al.
European Journal of Haematology, 2019
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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