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Q58561145-4C781785-82B9-49F8-B006-7D8E07AE91B8
Q58561145-4C781785-82B9-49F8-B006-7D8E07AE91B8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58561145-4C781785-82B9-49F8-B006-7D8E07AE91B8
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
P2860
Q58561145-4C781785-82B9-49F8-B006-7D8E07AE91B8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58561145-4C781785-82B9-49F8-B006-7D8E07AE91B8
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Statement
wasDerivedFrom
d6d90480b26679aaaaf1560e3b1482d6b34b0ef6
P2860
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.