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Q35762931-0C03BFC7-2282-4FAD-AE35-8C2B66E3BFA5
Q35762931-0C03BFC7-2282-4FAD-AE35-8C2B66E3BFA5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35762931-0C03BFC7-2282-4FAD-AE35-8C2B66E3BFA5
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
P2860
Q35762931-0C03BFC7-2282-4FAD-AE35-8C2B66E3BFA5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35762931-0C03BFC7-2282-4FAD-AE35-8C2B66E3BFA5
rank
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type
BestRank
Statement
wasDerivedFrom
99e08e5a3ca695d1d21e61cae03f545eef394f7c
P2860
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay