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Q57484322-607AF574-9828-4E96-B2FD-F0F6F4F8E6D5
Q57484322-607AF574-9828-4E96-B2FD-F0F6F4F8E6D5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57484322-607AF574-9828-4E96-B2FD-F0F6F4F8E6D5
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
P2860
Q57484322-607AF574-9828-4E96-B2FD-F0F6F4F8E6D5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57484322-607AF574-9828-4E96-B2FD-F0F6F4F8E6D5
rank
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type
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wasDerivedFrom
cddc5db81dd1747d2d348fa8b14e619569132815
P2860
Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?