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Q36859420-E5E450BB-36D7-43C6-97B9-C44CAA40CFDD
Q36859420-E5E450BB-36D7-43C6-97B9-C44CAA40CFDD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36859420-E5E450BB-36D7-43C6-97B9-C44CAA40CFDD
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
P2860
Q36859420-E5E450BB-36D7-43C6-97B9-C44CAA40CFDD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36859420-E5E450BB-36D7-43C6-97B9-C44CAA40CFDD
rank
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type
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Statement
wasDerivedFrom
a6af9474864390acbfefc3c59b99b1c1ed245dbf
P2860
A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.