A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.
Human Mutation
Parle-McDermott, Anne A; Pangilinan, Faith F; O'Brien, Kirsty K KK; Mills, James L JL; Magee, Alan M AM; Troendle, James J; Sutton, Marie M; Scott, John M JM; Kirke, Peadar N PN; Molloy, Anne M AM; Brody, Lawrence C LC