Associated Papers
Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome.
Pan X et al.
Frontiers in Genetics, 2022
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au PYB et al.
European Journal of Human Genetics : Ejhg, 2018
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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