Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.A90V
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GAPDH

NM_002046.7:p.A90V

Associated Papers

Mature iPSC-derived astrocytes of an ALS/FTD patient carrying the TDP43A90V mutation display a mild reactive state and release polyP toxic to motoneurons.

Rojas F et al.

Frontiers in Cell and Developmental Biology, 2023

37645251 (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."