Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

doi:10.1038/s41431-023-01293-0

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Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

European journal of human genetics : EJHG - 1 Apr 2023

Horton Ari E, Lunke Sebastian, Sadedin Simon, Fennell Andrew P, Stark Zornitza

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PMID: 36732660
DOI: 10.1038/s41431-023-01293-0
PMCID: PMC10133393

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