Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

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Ronin Governs Early Heart Development by Controlling Core Gene Expression Programs.Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

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http://www.wikidata.org/entity/Q38816657

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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Mutations in THAP11 cause an i ...... d developmental abnormalities.

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Mutations in THAP11 cause an i ...... d developmental abnormalities.

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Mutations in THAP11 cause an i ...... d developmental abnormalities.

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Mutations in THAP11 cause an i ...... d developmental abnormalities.

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P2093

Abigail Watson

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Alison Brebner

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Anita M Quintana

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Bruce Appel

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David S Rosenblatt

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David Watkins

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Elizabeth A Geiger

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Mihaela Pupavac

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Shu-Huang Chen

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Tamim H Shaikh

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HCF-1 functions as a coactivator for the zinc finger protein Krox20

Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1

The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias

NMR studies of a new family of DNA binding proteins: the THAP proteins

The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1.

Ronin is essential for embryogenesis and the pluripotency of mouse embryonic stem cells

Association of a protein phosphatase 1 activity with the human factor C1 (HCF) complex

E2F1 mediates DNA damage and apoptosis through HCF-1 and the MLL family of histone methyltransferases

The C-terminal region of the transcriptional regulator THAP11 forms a parallel coiled-coil domain involved in protein dimerization

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism

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2838-2849

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scholarly article

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10.1093/HMG/DDX157

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P478

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Hung-Chun Yu

Flemming Skovby

Warren A. Cheung

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2017-04-25T00:00:00Z

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28449119

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5886234

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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

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P2860

P2860

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

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P932