Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.W1180R
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SAMD9L

NM_152703.5:p.W1180R

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

Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice.

Abdelhamed S et al.

The Journal of Clinical Investigation, 2022

Inflammation fuels bone marrow exhaustion caused by Samd9l mutation.

Jung M

The Journal of Clinical Investigation, 2022

Structure and function of an effector domain in antiviral factors and tumor suppressors SAMD9 and SAMD9L.

Peng S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

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

Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.

Ahmed IA et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2019

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

Cheah JJC et al.

Haematologica, 2019

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

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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."