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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LSS

Variant:p.H510_L511insFs

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LSS

NM_002340.6:p.H510_L511insFs

hg38:chr21:46206705 A>AG

Associated Papers

Clinical findings in patients with GLI2 mutations--phenotypic variability.

Bertolacini CD et al.

Clinical Genetics, 2012

21204792 (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."