https://severus.dbmi.pitt.edu/wiki-MPM/index.php/pair/view/375791/284111
CYSRT1 and SLC13A5 - Wiki-MPM
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https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1474390/full
Frontiers | Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with...
IntroductionBiallelic loss-of-function variants in the SLC13A5 (solute carrier family 13, member 5) gene are responsible for autosomal recessive developmenta...