Gene: SLC1A4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4 		0.010 GeneticVariation disease BEFREE Exome sequencing performed in an Irish proband identified a novel homozygous nonsense SLC1A4 variant [p.Trp453*], confirming a second case of SLC1A4-associated infantile spasms. 27193218 2016