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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SP1

Variant:p.N244_V245insTG

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SP1

NM_138473.3:p.N244_V245insTG

hg38:chr12:53382677 A>ANNNNNN

Associated Papers

SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.

Hendig D et al.

Clinical Chemistry, 2007

17384004 (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."