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Q54541542-78B1776D-ACA7-4DF3-8986-720A225DBE62
Q54541542-78B1776D-ACA7-4DF3-8986-720A225DBE62
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54541542-78B1776D-ACA7-4DF3-8986-720A225DBE62
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
P2860
Q54541542-78B1776D-ACA7-4DF3-8986-720A225DBE62
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54541542-78B1776D-ACA7-4DF3-8986-720A225DBE62
rank
NormalRank
type
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Statement
wasDerivedFrom
bb749dd5974a4b1ef465829a4220af52918373a7
P2860
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33