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Q36019531-40B152E3-BEAB-4283-8615-21B6EBAFE4D5
Q36019531-40B152E3-BEAB-4283-8615-21B6EBAFE4D5
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http://www.wikidata.org/entity/statement/Q36019531-40B152E3-BEAB-4283-8615-21B6EBAFE4D5
A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.
P2860
Q36019531-40B152E3-BEAB-4283-8615-21B6EBAFE4D5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36019531-40B152E3-BEAB-4283-8615-21B6EBAFE4D5
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wasDerivedFrom
eb302a82dd1aa9742ceb7eec26956c220fa018cd
P2860
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.