Associated Papers
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.
Jägle S et al.
The British Journal of Dermatology, 2023
Comprehensive Computational Analysis of Protein Phenotype Changes Due to Plausible Deleterious Variants of Human SPTLC1 Gene.
Sadaf T et al.
International Journal of Molecular and Cellular Medicine, 2019
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