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Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients
by
Piacitelli, Andrew M.
,
Jensen, Dana M.
,
Brandling‐Bennett, Heather
,
Gray, Megan Mariner
,
Batra, Maneesh
,
Gust, Juliane
,
Thaker, Ameet
,
Paschal, Catherine
,
Tsuchiya, Karen
,
Pritchard, Colin C.
,
Perkins, Jonathan
,
Mirzaa, Ghayda M.
,
Bennett, James T.
Published in
American journal of medical genetics. Part A
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Characterization of a Severe Case of PIK3CA-related Overgrowth at Autopsy by Droplet Digital PCR and Report of PIK3CA Sequencing in 22 Patients
by
Piacitelli, Andrew M
,
Jensen, Dana M
,
Brandling-Bennett, Heather
,
Mariner Gray, Megan
,
Batra, Maneesh
,
Gust, Juliane
,
Thaker, Ameet
,
Paschal, Catherine
,
Tsuchiya, Karen
,
Pritchard, Colin C.
,
Perkins, Jonathan
,
Mirzaa, Ghayda M
,
Bennett, James T
Published in
American journal of medical genetics. Part A
Get full text
Article
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Journal Title
American Journal Of Medical Genetics. Part A
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American Journal Of Medical Genetics Part A
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Subjects
Abnormalities, Multiple - Genetics
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1
Alleles
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1
Autopsy
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1
Brain Injury
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1
Class I Phosphatidylinositol 3-Kinases - Genetics
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1
Cohort Studies
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1
Ddpcr
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1
Diagnosis
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1
Genetics & Heredity
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1
High-Throughput Nucleotide Sequencing - Methods
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1
Humans
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1
Ischemia
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1
Life Sciences & Biomedicine
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1
Mosaicism
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Mutation
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1
Mutation - Genetics
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Next-Generation Sequencing
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Overgrowth
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Pik3Ca
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1
Polymerase Chain Reaction
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Wiley-Blackwell Journals
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Wiley
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