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Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies
by
Tolmacheva, Ekaterina
,
Bolshakova, Anna S
,
Shubina, Jekaterina
,
Rogacheva, Margarita S
,
Ekimov, Alexey N
,
Podurovskaya, Julia L
,
Burov, Artem A
,
Rebrikov, Denis V
,
Bychenko, Vladimir G
,
Trofimov, Dmitry Yu
,
Sukhikh, Gennady T
Published in
BMC medical genomics
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Bmc Medical Genomics
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Abnormalities, Multiple - Genetics
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Analysis
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Atrophy
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Birth Defects
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Brain Stem
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Care And Treatment
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Case Report
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Child Development
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Congenital Defects
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Convulsions & Seizures
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Corpus Callosum
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De Novo Variant
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Diagnosis
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Epilepsy
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Exome Sequencing
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Expanding Phenotype
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Genes
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Genetics & Heredity
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