Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Trujillano, Daniel

Clinical exome sequencing: results from 2819 samples reflecting 1000 families. [electronic resource] - European journal of human genetics : EJHG 02 2017 - 176-182 p. digital

Publication Type: Evaluation Study; Journal Article

1476-5438

10.1038/ejhg.2016.146 doi


Adolescent
Adult
Child
Child, Preschool
Exome
Female
Flavoproteins--genetics
Genetic Testing--methods
Genotyping Techniques--methods
Humans
Infant
Infant, Newborn
Intracellular Signaling Peptides and Proteins--genetics
Male
Middle Aged
Mitochondrial Proteins--genetics
NAV1.3 Voltage-Gated Sodium Channel--genetics
Nuclear Family
Phenotype
Potassium Channels--genetics
Protein Tyrosine Phosphatases, Non-Receptor--genetics
Protoporphyrinogen Oxidase--genetics
Sequence Analysis, DNA--methods
Sodium Channels--genetics
Voltage-Gated Sodium Channel beta-1 Subunit--genetics