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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLI2

Variant:p.M1220_T1221insT

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GLI2

NM_001374353.1:p.M1220_T1221insT

hg38:chr2:120989623 A>ANNN

Associated Papers

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Schröder S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33024317 (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."