Article

Mutation hot spots for clinical pathogenicity across the SLC6 transporter family

2025-01-26

Abstract excerpt

Genetic mutations of the Solute Carrier 6 (SLC6) family can lead to a diversity of clinal syndromes, such as creatine deficiency. Studying the impact of genetic mutations at the SLC6 family level is valuable not only for their medical significance but also for their conserved sequence and structural features. Within this work, we aim to link the disease-related mutations to their clinical significance from protein...

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Literature Corpus work: dde2530e-52cf-52ec-930f-b20a20a3f660
DOI: 10.1101/2025.01.24.634481

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