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Q30527899-4C9F2121-6C8C-4632-BB16-FC33143F73D1
Q30527899-4C9F2121-6C8C-4632-BB16-FC33143F73D1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30527899-4C9F2121-6C8C-4632-BB16-FC33143F73D1
A novel syndrome of lethal familial hyperekplexia associated with brain malformation.
P2860
Q30527899-4C9F2121-6C8C-4632-BB16-FC33143F73D1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30527899-4C9F2121-6C8C-4632-BB16-FC33143F73D1
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Statement
wasDerivedFrom
197cce731559769217b696ad3338a703c1fc34e6
P2860
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor