Varaico: Literature-Extracted Genetic Variants

Gene:LDHB
Variant:p.R172H
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LDHB

NM_002300.8:p.R172H

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Dysregulated lactate metabolism synergizes with ALS genetic risk factors to accelerate motor decline.

Tendulkar S et al.

Biorxiv : the Preprint Server for Biology, 2025

The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.

Baker HA et al.

Journal of Cell Science, 2025

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
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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."