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Q36019531-77FEFC90-17FF-4086-ACC6-793DC354268D
Q36019531-77FEFC90-17FF-4086-ACC6-793DC354268D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36019531-77FEFC90-17FF-4086-ACC6-793DC354268D
A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.
P2860
Q36019531-77FEFC90-17FF-4086-ACC6-793DC354268D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36019531-77FEFC90-17FF-4086-ACC6-793DC354268D
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
eb302a82dd1aa9742ceb7eec26956c220fa018cd
P2860
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome