Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R1281K
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SAMD9

NM_017654.4:p.R1281K

Associated Papers

New SAMD9L heterozygous mutation leading to myelodysplastic syndrome and acute myeloid leukemia: A case report and review of the literature.

Monagel DA

Cancer Reports (hoboken, N.j.), 2023

Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.

Thomas ME et al.

Leukemia, 2021

Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.

Nagamachi A et al.

The Journal of Clinical Investigation, 2021

Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Klco JM et al.

Nature Reviews. Cancer, 2021

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.

Yoshida M et al.

British Journal of Haematology, 2020

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM16_ESM.xlsx › Sup._T13_-_Mutagenesis-Cloning
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."