nucleotide sugar transporter SLC35D1 isoform X1 [Homo sapiens]

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A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree. [Am J Med Genet A. 2022]
A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree.
Özer L, Aktuna S, Unsal E, Ünal MA, Sahin G, Baltaci V. Am J Med Genet A. 2022 Oct; 188(10):3078-3083. Epub 2022 Aug 7.
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. [Hum Mol Genet. 2019]
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Rautengarten C, Quarrell OW, Stals K, Caswell RC, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, et al. Hum Mol Genet. 2019 Nov 1; 28(21):3543-3551.
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. [J Med Genet. 2009]
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, et al. J Med Genet. 2009 Aug; 46(8):562-8. Epub 2009 Jun 8.

RefSeq genomic sequence
See the genomic reference sequence for the SLC35D1 gene (NG_012933.1).
RefSeq mRNA
See reference mRNA sequence for the SLC35D1 gene (XM_054335359.1).
RefSeq protein isoforms
See 15 reference sequence protein isoforms for the SLC35D1 gene.

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nucleotide sugar transporter SLC35D1 isoform X1 [Homo sapiens]
nucleotide sugar transporter SLC35D1 isoform X1 [Homo sapiens]
gi|2462506607|ref|XP_054191334.1|

Protein
Homologene neighbors for GEO Profiles (Select 8509259) (0)
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PubChem Compound
Chromosome neighbors for GEO Profiles (Select 115146665) (20)
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Homologene neighbors for GEO Profiles (Select 71236447) (0)
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