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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBM12

Variant:p.M17_D18delFs

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RBM12

NM_006047.6:p.M17_D18delFs

hg38:chr20:35655268 TGTCCA>T

Associated Papers

Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.

Kimball TN et al.

Molecular Genetics & Genomic Medicine, 2024

39620496 (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."