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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDHD

Variant:p.G448_K449delFs

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LDHD

NM_194436.3:p.G448_K449delFs

hg38:chr16:75112462 CGCTT>C

Associated Papers

Novel Biallelic Variants in DLD Gene Cause a Reversible Sensory Neuropathy.

Wang L et al.

Clinical Genetics, 2026

40888368 (PubMed )

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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."