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Q30577686-B1CA7C93-6BCC-491C-92E4-330B49EC5BD9
Q30577686-B1CA7C93-6BCC-491C-92E4-330B49EC5BD9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30577686-B1CA7C93-6BCC-491C-92E4-330B49EC5BD9
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect
P2860
Q30577686-B1CA7C93-6BCC-491C-92E4-330B49EC5BD9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30577686-B1CA7C93-6BCC-491C-92E4-330B49EC5BD9
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Statement
wasDerivedFrom
e7e9a810fb64a0a98a16103052d3f6aae59905d3
P2860
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.