Associated Papers
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
Sher G et al.
European Journal of Medical Genetics, 2014
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Li Y et al.
American Journal of Human Genetics, 2010
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