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Q48728014-5E623F4F-B771-466E-9803-03E25802DA88
Q48728014-5E623F4F-B771-466E-9803-03E25802DA88
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http://www.wikidata.org/entity/statement/Q48728014-5E623F4F-B771-466E-9803-03E25802DA88
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
P2860
Q48728014-5E623F4F-B771-466E-9803-03E25802DA88
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48728014-5E623F4F-B771-466E-9803-03E25802DA88
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wasDerivedFrom
9d54d1e792b406089950d22fbae0f476943e3fdd
P2860
Mutational analysis of aspartoacylase: implications for Canavan disease