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Q27315952-EFFC21CC-62AD-44EB-AAAB-C11333B08743
Q27315952-EFFC21CC-62AD-44EB-AAAB-C11333B08743
BestRank
Statement
http://www.wikidata.org/entity/statement/Q27315952-EFFC21CC-62AD-44EB-AAAB-C11333B08743
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia
P2860
Q27315952-EFFC21CC-62AD-44EB-AAAB-C11333B08743
BestRank
Statement
http://www.wikidata.org/entity/statement/Q27315952-EFFC21CC-62AD-44EB-AAAB-C11333B08743
rank
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wasDerivedFrom
05b5418b51e5f670ea627fb23f2afcdb42660668
P2860
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.