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Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.
Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.
2016
Allison J. Burbank
Shaili N. Shah
Maureen C. Montgomery
David B. Peden
Teresa K. Tarrant
Eric T. Weimer
Keywords:
Exome sequencing
Exome
Single-nucleotide polymorphism
Immunologic Deficiency Syndromes
Mutation
Cancer research
DOCK8 Deficiency
Phenotype
Genetics
Medicine
Biology
Correction
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