Associated Papers
Phenotype-Genotype Correlation Applying a Cocktail Approach and an Exome Chip Analysis Reveals Further Variants Contributing to Variation of Drug Metabolism.
Böhm R et al.
Clinical Pharmacology and Therapeutics, 2024
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C et al.
Journal of Medical Genetics, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
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