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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAMHD1

Variant:p.Q186E

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SAMHD1

NM_015474.4:p.Q186E

hg38:chr20:36930829 G>C

Associated Papers

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

Abdel-Salam GMH et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

40302656 (PubMed )

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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."