Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.M267_L268Splc
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GLA

NM_000169.3:p.M267_L268Splc

Associated Papers

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

Kobayashi M et al.

Journal of Human Genetics, 2019

New mutations in the GLA gene in Brazilian families with Fabry disease.

Turaça LT et al.

Journal of Human Genetics, 2012

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

Shabbeer J et al.

Human Genomics, 2006

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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."