RecName: Full=SWI/SNF-related matrix-associated actin-dependent regula - Protein

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Specific Granule Deficiency Due To Novel Homozygote SMARCD2 Variant. [Pediatr Allergy Immunol Pulmon...]
Specific Granule Deficiency Due To Novel Homozygote SMARCD2 Variant.
Kihtir Z, Çelik K, Tayfun Küpesiz F, Küpesiz OA, Kocacik Uygun DF, Arayici S, Ongun H, Acarbulut İ, Sağlam C, Ceylaner G, et al. Pediatr Allergy Immunol Pulmonol. 2022 Mar; 35(1):43-46.
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2. [J Allergy Clin Immunol. 2021]
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR, van Houdt M, Janssen H, Kuijpers TW, Hambleton S. J Allergy Clin Immunol. 2021 Jun; 147(6):2381-2385.e2. Epub 2020 Dec 3.
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. [J Clin Immunol. 2021]
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.
Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, et al. J Clin Immunol. 2021 Jan; 41(1):59-65. Epub 2020 Oct 6.

RefSeq genomic sequence
See the genomic reference sequence for the SMARCD2 gene (NG_053004.1).

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Q92925 [Domain Mapping of Disease Mut...]
Q92925
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
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reagents [ExactAntigen/Labome]
reagents
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Protein