Varaico: Literature-Extracted Genetic Variants

Gene:SAMHD1
Variant:p.F165S
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SAMHD1

NM_015474.4:p.F165S

Associated Papers

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.

Li Y et al.

Clinical Immunology (orlando, Fla.), 2026

Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.

Oleksy B et al.

Molecular Syndromology, 2022

Deep White Matter Cysts in a Patient with Aicardi-Goutières Syndrome and SAMHD1 Variants.

Poot M

Molecular Syndromology, 2022

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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."