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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT122

Variant:p.E1208_Q1209Splc

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IFT122

NM_052985.4:p.E1208_Q1209Splc

hg38:chr3:129519187 G>A

Associated Papers

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM et al.

American Journal of Medical Genetics. Part A, 2018

29168297 (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."