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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIF1

Variant:p.Q1219E

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RIF1

NM_018151.5:p.Q1219E

hg38:chr2:151463175 C>G

Associated Papers

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.

Nabais Sá MJ et al.

Journal of Medical Genetics, 2022

34353863 (PubMed )

Supplement: jmedgenet-2020-107572supp003.xlsx › Variants

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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."