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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2005 | 1 |
2006 | 1 |
2013 | 2 |
2017 | 2 |
2021 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 23443
7 results
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Page 1
A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion.
Clin Genet. 2021 Apr;99(4):607-608. doi: 10.1111/cge.13909. Epub 2021 Jan 8.
Clin Genet. 2021.
PMID: 33416188
No abstract available.
A human case of SLC35A3-related skeletal dysplasia.
Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH.
Edmondson AC, et al.
Am J Med Genet A. 2017 Oct;173(10):2758-2762. doi: 10.1002/ajmg.a.38374. Epub 2017 Aug 4.
Am J Med Genet A. 2017.
PMID: 28777481
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Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
Marini C, Hardies K, Pisano T, May P, Weckhuysen S, Cellini E, Suls A, Mei D, Balling R, Jonghe PD, Helbig I, Garozzo D; EuroEPINOMICS consortium AR working group; Guerrini R.
Marini C, et al.
Am J Med Genet A. 2017 Apr;173(4):1119-1123. doi: 10.1002/ajmg.a.38112.
Am J Med Genet A. 2017.
PMID: 28328131
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Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O.
Edvardson S, et al.
J Med Genet. 2013 Nov;50(11):733-9. doi: 10.1136/jmedgenet-2013-101753. Epub 2013 Sep 12.
J Med Genet. 2013.
PMID: 24031089
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UDP-N-acetylglucosamine transporter (SLC35A3) regulates biosynthesis of highly branched N-glycans and keratan sulfate.
Maszczak-Seneczko D, Sosicka P, Olczak T, Jakimowicz P, Majkowski M, Olczak M.
Maszczak-Seneczko D, et al.
J Biol Chem. 2013 Jul 26;288(30):21850-60. doi: 10.1074/jbc.M113.460543. Epub 2013 Jun 13.
J Biol Chem. 2013.
PMID: 23766508
Free PMC article.
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A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation.
Thomsen B, Horn P, Panitz F, Bendixen E, Petersen AH, Holm LE, Nielsen VH, Agerholm JS, Arnbjerg J, Bendixen C.
Thomsen B, et al.
Genome Res. 2006 Jan;16(1):97-105. doi: 10.1101/gr.3690506. Epub 2005 Dec 12.
Genome Res. 2006.
PMID: 16344554
Free PMC article.
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Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter.
Ishida N, Yoshioka S, Chiba Y, Takeuchi M, Kawakita M.
Ishida N, et al.
J Biochem. 1999 Jul;126(1):68-77. doi: 10.1093/oxfordjournals.jbchem.a022437.
J Biochem. 1999.
PMID: 10393322
Free article.
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