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Q53290346-703CFAA2-D2A3-4B39-94C6-036BE532762C
Q53290346-703CFAA2-D2A3-4B39-94C6-036BE532762C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53290346-703CFAA2-D2A3-4B39-94C6-036BE532762C
An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.
P50
Q53290346-703CFAA2-D2A3-4B39-94C6-036BE532762C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53290346-703CFAA2-D2A3-4B39-94C6-036BE532762C
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
208f3f13f2df59a5681b226ea0cc8a82b8a40bba
P1545
2
http://www.w3.org/2001/XMLSchema#string
P50
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