Varaico: Literature-Extracted Genetic Variants

Gene:SAMHD1
Variant:p.R290C
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SAMHD1

NM_015474.4:p.R290C

Associated Papers

Moyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report.

Le Floch K et al.

Pediatric Radiology, 2025

SAMHD1 in cancer: curse or cure?

Schott K et al.

Journal of Molecular Medicine (berlin, Germany), 2022

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

25604658 (PubMed )
Supplement: supplement_1.docx

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

Clifford R et al.

Blood, 2014

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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."