Varaico: Literature-Extracted Genetic Variants

Gene:LDHA
Variant:p.G253_A260delFs
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LDHA

NM_005566.4:p.G253_A260delFs

Associated Papers

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003

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

Serrano-Lorenzo P et al.

Genes, 2022

Analysis of trio test in neurodevelopmental disorders.

Kim SH et al.

Frontiers in Pediatrics, 2022

36619507 (PubMed )
Supplement: Datasheet1.pdf
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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."