Varaico: Literature-Extracted Genetic Variants

Gene:GABPA
Variant:p.D185E
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GABPA

NM_002040.4:p.D185E

Associated Papers

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.

Yang Y et al.

Cell Death & Disease, 2021

34716303 (PubMed )
Supplement: 41419_2021_4331_MOESM2_ESM.xlsx › Sheet1

Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation.

Catanese A et al.

Autophagy, 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."