Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.Q233*
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LDHA

NM_005566.4:p.Q233*

Associated Papers

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Serrano-Lorenzo P et al.

Genes, 2022

Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.

Sikora P et al.

Polish Archives of Internal Medicine, 2020

Exertional myalgia, contractures and annular erythema in a patient with muscle lactate dehydrogenase (LDH) deficiency.

Yue D et al.

Neuromuscular Disorders : Nmd, 2018

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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."