Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.R13H
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GAPDH

NM_002046.7:p.R13H

Associated Papers

SCGB1A1 rs3741240 variant downregulates CC16: a molecular insight into COPD pathogenesis in Indian population.

Sultana N et al.

Frontiers in Immunology, 2025

Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.

Baumann H et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons.

Staege S et al.

Frontiers in Cell and Developmental Biology, 2021

Analyses on K-ras mutations and fascin expression in patients with cardia cancer.

Wei L et al.

Oncology Letters, 2019

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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."