Gonzaga-Jauregui et al., 2015 - Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports   12(7):1169-83 Full text @ Cell Rep.
12 Genes / Markers
Marker Type Symbol Name
Gene abhd12 abhydrolase domain containing 12, lysophospholipase
Gene ankrd6b ankyrin repeat domain 6b
Gene dnajb5 DnaJ heat shock protein family (Hsp40) member B5
Gene fabp4a fatty acid binding protein 4a
Gene gdap1 ganglioside induced differentiation associated protein 1
Gene hspb1 heat shock protein, alpha-crystallin-related, 1
Gene med25 mediator complex subunit 25
Gene mfn2 mitofusin 2
Gene rp1l1a rp1 like 1a
Gene six6a SIX homeobox 6a
Gene sptlc3 serine palmitoyltransferase, long chain base subunit 3
Gene wnk1b WNK lysine deficient protein kinase 1b