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Q36508470-AB345D5D-C1EA-404B-9B0B-0942F116D537
Q36508470-AB345D5D-C1EA-404B-9B0B-0942F116D537
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Statement
http://www.wikidata.org/entity/statement/Q36508470-AB345D5D-C1EA-404B-9B0B-0942F116D537
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).
P2860
Q36508470-AB345D5D-C1EA-404B-9B0B-0942F116D537
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36508470-AB345D5D-C1EA-404B-9B0B-0942F116D537
rank
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type
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Statement
wasDerivedFrom
1f7c0439006b914ab5276aecd2fb9125a535cc6b
P2860
Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.