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    Open Access

    Genome sequencing in families with congenital limb malformations

    The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all gene...

    Jonas Elsner, Martin A. Mensah, Manuel Holtgrewe, Jakob Hertzberg… in Human Genetics (2021)

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