vacuolar protein sorting-associated protein 45 isoform 3 [Homo sapiens - Protein

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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. [Am J Med Genet A. 2015]
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
Meerschaut I, Bordon V, Dhooge C, Delbeke P, Vanlander AV, Simon A, Klein C, Kooy RF, Somech R, Callewaert B. Am J Med Genet A. 2015 Dec; 167A(12):3214-8. Epub 2015 Sep 11.
Molecular cloning and characterization of a cDNA encoding the human leucocyte vacuolar protein sorting (h1Vps45). [Int J Biochem Cell Biol. 1999]
Molecular cloning and characterization of a cDNA encoding the human leucocyte vacuolar protein sorting (h1Vps45).
Rajasekariah P, Eyre HJ, Stanley KK, Walls RS, Sutherland GR. Int J Biochem Cell Biol. 1999 Jun; 31(6):683-94.
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. [Blood. 2013]
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, Saleh H, Simanovsky N, Kogot-Levin A, Weintraub M, et al. Blood. 2013 Jun 20; 121(25):5078-87. Epub 2013 Apr 18.

RefSeq genomic sequence
See the genomic reference sequence for the VPS45 gene (NG_033910.1).
RefSeq mRNA
See reference mRNA sequence for the VPS45 gene (NM_001279354.2).

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vacuolar protein sorting-associated protein 45 isoform 3 [Homo sapiens]
vacuolar protein sorting-associated protein 45 isoform 3 [Homo sapiens]
gi|525342526|ref|NP_001266283.1|

Protein
Homo sapiens vacuolar protein sorting 45 homolog (VPS45), transcript variant 1, ...
Homo sapiens vacuolar protein sorting 45 homolog (VPS45), transcript variant 1, mRNA
gi|525342499|ref|NM_007259.4|

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Chromosome neighbors for GEO Profiles (Select 35896294) (20)
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Nucleotide Links for BioSample (Select 16056089) (358)
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