Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas
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| Description | scientific article published on 30 November 2020 |
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| Publication date | November 30, 2020 |
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