Varaico: Literature-Extracted Genetic Variants

Gene:DLD
Variant:p.S28C
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DLD

NM_000108.5:p.S28C

Associated Papers

Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.

He D et al.

Genes & Diseases, 2025

39314515 (PubMed )
Supplement: mmc1.xlsx › Table_S4

A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease.

Liu G et al.

Frontiers in Genetics, 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."