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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
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subject areas
Alleles
Amino Acid Substitution
Animals
Anodontia
Child
Consanguinity
Facies
Genetic Association Studies
Genotype
Humans
Male
Mice
Microfilament Proteins
Mutation
Neoplasm Proteins
Pedigree
Phenotype
Radiography
Receptors, Cell Surface
authors with profiles
ERIC BOERWINKLE
RICHARD GIBBS
JAMES LUPSKI
DONNA MUZNY
JENNIFER POSEY