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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34.
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PubMed
subject areas
Adolescent
Adult
Alopecia
Anodontia
Base Sequence
Child
Chromosome Segregation
DNA Mutational Analysis
Exome
Facies
Family
Female
Growth Disorders
Humans
Male
Microfilament Proteins
Molecular Sequence Data
Mutation
Neoplasm Proteins
Optic Atrophies, Hereditary
Pedigree
Protein Structure, Tertiary
Receptors, Cell Surface
authors with profiles
DAVUT PEHLIVAN
ERIC BOERWINKLE
RICHARD GIBBS
JAMES LUPSKI
DONNA MUZNY