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Q41918738-B8A26BC8-2FF2-4AD6-81AB-1968CC298157
Q41918738-B8A26BC8-2FF2-4AD6-81AB-1968CC298157
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41918738-B8A26BC8-2FF2-4AD6-81AB-1968CC298157
Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.
P2860
Q41918738-B8A26BC8-2FF2-4AD6-81AB-1968CC298157
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41918738-B8A26BC8-2FF2-4AD6-81AB-1968CC298157
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wasDerivedFrom
ff9cad30b3f5c10711a26ad053f91d49e8bdd3d1
P2860
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.