https://www.selleckchem.com/pr....oducts/Fasudil-HCl(H
RESULTS The Finnish patients harboured compound heterozygous loss-of-function variants (c.1165_1166dup p.(Gln390Phefs*32), and c.2151del p.(Lys717Asnfs*29)) in TBC1D32; the Pakistani proband carried a known pathogenic homozygous TBC1D32 splice-site variant c.1372+1GA p.(Arg411_Gly458del), as did a fetus with cleft lip and partial intestinal malrotation from a terminated pregnancy within the same pedigree. TBC1D32 was expressed in the developing hypothalamus, Rathke's pouch and areas of the hindbrain. TBC1D32 interacted
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