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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Glomerular Filtration Rate
HANDOKO, MAUREEN
MARCIANO, DAVID
Nitrosomethylurethane
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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561.
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PubMed
subject areas
Adaptor Proteins, Signal Transducing
Alleles
Base Sequence
Codon, Nonsense
Craniofacial Abnormalities
Dishevelled Proteins
Dwarfism
Exons
Female
Frameshift Mutation
Genetic Variation
Humans
Limb Deformities, Congenital
Male
Molecular Sequence Data
Phosphoproteins
Proto-Oncogene Proteins
Receptor Tyrosine Kinase-like Orphan Receptors
Sequence Analysis, DNA
Sequence Deletion
Urogenital Abnormalities
Wnt Proteins
Wnt-5a Protein
authors with profiles
RICHARD GIBBS
JAMES LUPSKI
DONNA MUZNY
VERNON SUTTON