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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPP1

Variant:p.H274H

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SPP1

NM_001040058.2:p.H274H

hg38:chr4:87982773 C>T

Associated Papers

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.

Clementi R et al.

Blood, 2006

16720836 (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."