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Q38357069-6114EF91-19E6-40A3-812F-735E9131DA8F
Q38357069-6114EF91-19E6-40A3-812F-735E9131DA8F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38357069-6114EF91-19E6-40A3-812F-735E9131DA8F
A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome.
P50
Q38357069-6114EF91-19E6-40A3-812F-735E9131DA8F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38357069-6114EF91-19E6-40A3-812F-735E9131DA8F
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
217514da7c3ac0a16dbbca43420d0ac3d9791ceb
P1545
6
http://www.w3.org/2001/XMLSchema#string
P1932
Oded Sperling
http://www.w3.org/2001/XMLSchema#string
P50
Oded Sperling