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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

Case Rep Genet. 2015; 2015: 454526. Published online 2015 Oct 26. doi: 10.1155/2015/454526

PMCID:: PMC4637447

Abstract Article PDF–924K

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PMC Links for Nucleotide (Select 205361195) (1)
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zinc finger protein 64 [Rattus norvegicus]
zinc finger protein 64 [Rattus norvegicus]
gi|58865756|ref|NP_001012093.1|

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