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Q41962739-DFCCDDD6-566A-4E86-B0D8-14E39712B094
Q41962739-DFCCDDD6-566A-4E86-B0D8-14E39712B094
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41962739-DFCCDDD6-566A-4E86-B0D8-14E39712B094
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
P2860
Q41962739-DFCCDDD6-566A-4E86-B0D8-14E39712B094
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41962739-DFCCDDD6-566A-4E86-B0D8-14E39712B094
rank
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type
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wasDerivedFrom
610620779aebd9b137135f1e192554a2fc665b8f
P2860
Molecular findings among patients referred for clinical whole-exome sequencing.