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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.R220L

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GLA

NM_000169.3:p.R220L

hg38:chrX:101398927 C>A

Associated Papers

p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease.

Barman HA et al.

Anatolian Journal of Cardiology, 2022

35552179 (PubMed )

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