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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARFGEF1

Variant:p.T306Splc

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ARFGEF1

NM_006421.5:p.T306Splc

hg38:chr8:67288066 C>A

Associated Papers

Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder.

Xu L et al.

Frontiers in Molecular Neuroscience, 2022

35782386 (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."