Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2
Author:
Affiliation:
1. Universitätsklinikum Münster, Klinik für Kinder und Jugendmedizin Münster Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62048
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