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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPEN

Variant:p.R672Q

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SPEN

NM_015001.3:p.R672Q

hg38:chr1:15928255 G>A

Associated Papers

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Mouden C et al.

Plos One, 2015

25658757 (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."