Defective ST3GAL3 causes MCT12 and EIEE15 - Wikidata - awgldk - TriplyDB

Defective ST3GAL3 causes MCT12 and EIEE15

Defective ST3GAL3 causes MCT12 and EIEE15

http://www.wikidata.org/entity/Q45316525

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Defective ST3GAL3 does not transfer SA to keratan

P361

Diseases associated with glycosaminoglycan metabolism

P527

Q50289207-A8903F12-ADC8-4211-82D4-0F1C6C9F508A

P361

Q45316511-7A46277D-227F-4E06-9D45-8A6658B053D1

P527

Defective ST3GAL3 causes MCT12 and EIEE15

http://www.wikidata.org/entity/Q45316525

description

An instance of the biological ...... T12 and EIEE15 in Homo sapiens

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name

Defective ST3GAL3 causes MCT12 and EIEE15

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type

label

Defective ST3GAL3 causes MCT12 and EIEE15

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prefLabel

Defective ST3GAL3 causes MCT12 and EIEE15

@en

P2860

Q45316525-1619670F-55E0-4DD7-AB1F-F310DC3ED6B3

Q45316525-5EC013BF-944B-4BD5-8E1E-ED797F3C821F

Q45316525-D929760E-EAD4-4698-AA71-1F0488005467

P2888

Q45316525-12D1EB9B-5102-4724-AA10-FBB9777CBB8C

P31

Q45316525-244878A0-D27D-4D8B-A024-6E24E10E0130

P361

Q45316525-34B7E79F-E458-4435-811B-B91314882BE5

P3937

Q45316525-187AEB41-9E0E-4856-B14D-5C92CBB54843

P527

Q45316525-419EB587-16A9-4CA8-8ED4-2526FFDB4F0B

P703

Q45316525-9EDFD6D3-C452-402A-A2B8-58DADE6F9DFB

P2860

ST3GAL3 mutations impair the development of higher cognitive functions.

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

West syndrome caused by ST3Gal-III deficiency.

P2888

reactome:R-HSA-3656243

P31

biological pathway

P361

Diseases associated with glycosaminoglycan metabolism

P3937

R-HSA-3656243

http://www.w3.org/2001/XMLSchema#string

P527

Defective ST3GAL3 does not transfer SA to keratan

P703