Search Results - "Helbig, K.L."

Biallelic loss‐of‐function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability by Helbig, K.L., Mroske, C., Moorthy, D., Sajan, S.A., Velinov, M.

“…DOCK3 encodes the dedicator of cytokinesis 3 protein, a member of the DOCK180 family of proteins that are characterized by guanine‐nucleotide exchange factor…”
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Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping by Amos, J.S., Huang, L., Thevenon, J., Kariminedjad, A., Beaulieu, C.L., Masurel‐Paulet, A., Najmabadi, H., Fattahi, Z., Beheshtian, M., Tonekaboni, S.H., Tang, S., Helbig, K.L., Alcaraz, W., Rivière, J.‐B., Faivre, L., Innes, A.M., Lebel, R.R., Boycott, K.M.

“…THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form…”
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