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Q50209700-EDB3B0D2-F4F2-4721-8F98-CA92BEC39769
Q50209700-EDB3B0D2-F4F2-4721-8F98-CA92BEC39769
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50209700-EDB3B0D2-F4F2-4721-8F98-CA92BEC39769
Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.
P2860
Q50209700-EDB3B0D2-F4F2-4721-8F98-CA92BEC39769
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50209700-EDB3B0D2-F4F2-4721-8F98-CA92BEC39769
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wasDerivedFrom
c5d9f76d890ad6c40166ed56d1b3ae27dd0a745d
P2860
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.