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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GEMIN4

Variant:p.Q357*

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GEMIN4

NM_015721.3:p.Q357*

hg38:chr17:746974 G>A

Associated Papers

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM et al.

Clinical Genetics, 2001

11531969 (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."