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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SP7

Variant:p.P388_G392Fs

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SP7

NM_001173467.3:p.P388_G392Fs

hg38:chr12:53328268 CCAGCTCCTTGG>A

Associated Papers

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Gauthier LW et al.

Bone, 2024

37918503 (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."