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1
Q29147428-D506FC2F-27E6-4D3F-9526-32E72BABE32A
Q29147428-D506FC2F-27E6-4D3F-9526-32E72BABE32A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q29147428-D506FC2F-27E6-4D3F-9526-32E72BABE32A
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability
P2860
Q29147428-D506FC2F-27E6-4D3F-9526-32E72BABE32A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q29147428-D506FC2F-27E6-4D3F-9526-32E72BABE32A
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
df153093afec6165f99cbbbcfe8a2297817abc78
P2860
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.