Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.

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Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.

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Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.

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Bialellic Mutations in Tetratr ...... ke Phenotype with Enteropathy.

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Bialellic Mutations in Tetratr ...... ke Phenotype with Enteropathy.

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Bialellic Mutations in Tetratricopeptide Repeat Domain 7A

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Bialellic Mutations in Tetratr ...... ke Phenotype with Enteropathy.

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Bialellic Mutations in Tetratr ...... ke Phenotype with Enteropathy.

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Bialellic Mutations in Tetratricopeptide Repeat Domain 7A

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Bialellic Mutations in Tetratr ...... ke Phenotype with Enteropathy.

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Bialellic Mutations in Tetratr ...... ke Phenotype with Enteropathy.

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Bialellic Mutations in Tetratricopeptide Repeat Domain 7A

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2-s2.0-85028540199

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Journal of Clinical Immunology

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Bialellic Mutations in Tetratr ...... ke Phenotype with Enteropathy.

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Anoop Mistry

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Clive Carter

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Jens Stahlschmidt

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Mark Hull

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Philip M Wood

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Rashida Anwar

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P2860

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.

Multiple intestinal atresia with combined immune deficiency.

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.

Evaluation of phosphatidylinositol-4-kinase IIIα as a hepatitis C virus drug target

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s10875-017-0427-1

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617-622

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scholarly article

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10.1007/S10875-017-0427-1

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2017-08-14T00:00:00Z

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1091210191

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28808844

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