Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C202_K213delFs
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GLA

NM_000169.3:p.C202_K213delFs

Associated Papers

Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.

Dai X et al.

Orphanet Journal of Rare Diseases, 2022

35725559 (PubMed )
Supplement: 13023_2022_2377_MOESM1_ESM.xlsx › Primers_for_GLA_plasmids
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