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 › Predicted_OMIM
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
de Castro VF et al.
Molecular Syndromology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F et al.
Journal of Medical Genetics, 2009
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Domené S et al.
Human Molecular Genetics, 2008
SIX3 mutations with holoprosencephaly.
Ribeiro LA et al.
American Journal of Medical Genetics. Part A, 2006
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
Cohen MM
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
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