Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R854Q
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GAA

NM_000152.5:p.R854Q

Associated Papers

Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

Bui QM et al.

Future Cardiology, 2025

40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.

Nunes Campos L et al.

Cureus, 2024

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.

Ullah A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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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."