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Q41259293-3605E06F-1115-44E4-A765-B9B0010CF253
Q41259293-3605E06F-1115-44E4-A765-B9B0010CF253
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41259293-3605E06F-1115-44E4-A765-B9B0010CF253
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
P2860
Q41259293-3605E06F-1115-44E4-A765-B9B0010CF253
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41259293-3605E06F-1115-44E4-A765-B9B0010CF253
rank
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type
BestRank
Statement
wasDerivedFrom
c9168caafee8afa2f6035ff8921be7060c822dbe
P2860
Combined cardiological and neurological abnormalities due to filamin A gene mutation.