Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C174F
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GLA

NM_000169.3:p.C174F

Associated Papers

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.

Qiu H et al.

Protein Science : a Publication of the Protein Society, 2015

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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."