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Mild Phenotype Associated with SLC6A1 Gene Mutation: A Case Report with Literature Review

The Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes the gamma-aminobutyric acid (GABA) transporter 1, which is one of the main GABA transporters. The clinical picture of SLC6A1 gene mutations is characterized by a broader spectrum including a mild-to-moderate intellectual disability, speech d...

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Bibliografiske detaljer
Udgivet i:J Pediatr Neurosci
Main Authors: Posar, Annio, Visconti, Paola
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer - Medknow 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6712924/
https://ncbi.nlm.nih.gov/pubmed/31516630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_2_19
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