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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FKRP

Variant:p.G493*

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FKRP

NM_024301.5:p.G493*

hg38:chr19:46756927 G>T

Associated Papers

Saturation mutagenesis-reinforced functional assays for disease-related genes.

Ma K et al.

Cell, 2024

39326416 (PubMed )

Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).

Ma K et al.

Biorxiv : the Preprint Server for Biology, 2024

37873263 (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."