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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

SLC52A3  -  solute carrier family 52 (riboflavin...

Homo sapiens

Synonyms: BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, ...
 
 

C20orf54 has been shown to cause Brown-Vialetto-van Laere syndrome [1]

 

 

References

  1. Exome sequencing in Brown-Vialetto-van Laere syndrome. Johnson, J.O., Gibbs, J.R., Van Maldergem, L., Houlden, H., Singleton, A.B. Am. J. Hum. Genet. (2010) [Pubmed]
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