Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.L203F
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GAPDH

NM_002046.7:p.L203F

Associated Papers

Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome.

Mekzine L et al.

American Journal of Human Genetics, 2025

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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."