Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.

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Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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Bi-Allelic Mutations in STXBP2 ...... Cytotoxic Lymphocyte Killing.

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Bi-Allelic Mutations in STXBP2 ...... Cytotoxic Lymphocyte Killing.

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label

Bi-Allelic Mutations in STXBP2 ...... Cytotoxic Lymphocyte Killing.

@en

Bi-Allelic Mutations in STXBP2 ...... Cytotoxic Lymphocyte Killing.

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Bi-Allelic Mutations in STXBP2 ...... Cytotoxic Lymphocyte Killing.

@en

Bi-Allelic Mutations in STXBP2 ...... Cytotoxic Lymphocyte Killing.

@nl

P1476

Bi-Allelic Mutations in STXBP2 ...... n Cytotoxic Lymphocyte Killing

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Adrian Minson

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Andrew Grigg

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Hedieh Akhlaghi

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Ilia Voskoboinik

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Jamie A Lopez

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Joseph A Trapani

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Kevin Thia

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Lu Li Jovanoska

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Natasha J Brown

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Phillip K Darcy

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P2860

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

Syntaxin binding mechanism and disease-causing mutations in Munc18-2

Synaptic assembly of the brain in the absence of neurotransmitter secretion

Synaptic vesicle fusion complex contains unc-18 homologue bound to syntaxin

Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation.

De novo SCN1A mutations in migrating partial seizures of infancy.

Munc18-1 and Munc18-2 proteins modulate beta-cell Ca2+ sensitivity and kinetics of insulin exocytosis differently.

Functional-genetic dissection of HDAC dependencies in mouse lymphoid and myeloid malignancies.

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529

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scholarly article

case report

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10.3389/FIMMU.2018.00529

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P478

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Michael S. Hildebrand

Michael H. Kershaw

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2018-03-15T00:00:00Z

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29599780

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5862791

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