A novel truncating variant in ring finger protein 113A (...

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American Journal of Medical Genetics Part A 2019 / 12

A novel truncating variant in ring finger protein 113A ( RNF113A ) confirms the association of this gene with X‐linked trichothiodystrophy

Mendelsohn, Bryce A., Beleford, Daniah T., Abu‐El‐Haija, Aya, Alsaleh, Norah S., Rahbeeni, Zuhair, Martin, Pierre‐Marie, Rego, Shannon, Huang, Alyssa, Capodanno, Gina, Shieh, Joseph T., Van Ziffle, Je
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Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61450
Date:
December, 2019
File:
PDF, 2.92 MB
2019
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