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Q38463099-48AA54F1-A95F-4738-9A1A-30CF79688FC7
Q38463099-48AA54F1-A95F-4738-9A1A-30CF79688FC7
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Statement
http://www.wikidata.org/entity/statement/Q38463099-48AA54F1-A95F-4738-9A1A-30CF79688FC7
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.
P2860
Q38463099-48AA54F1-A95F-4738-9A1A-30CF79688FC7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38463099-48AA54F1-A95F-4738-9A1A-30CF79688FC7
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Statement
wasDerivedFrom
f63f9b7008db08a9eba4844bdb8c6152dfa3649e
P2860
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.