Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.V1512M
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SAMD9L

NM_152703.5:p.V1512M

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_32

Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.

Gahr S et al.

Experimental Cell Research, 2023

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

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.

Sahoo SS et al.

Nature Medicine, 2021

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

de Jesus AA et al.

The Journal of Clinical Investigation, 2020

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

Cheah JJC et al.

Haematologica, 2019

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Pastor VB et al.

Haematologica, 2018

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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."