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Q36859420-D951A2EC-B0DE-4A8C-A5DC-61C2E0A04AEC
Q36859420-D951A2EC-B0DE-4A8C-A5DC-61C2E0A04AEC
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http://www.wikidata.org/entity/statement/Q36859420-D951A2EC-B0DE-4A8C-A5DC-61C2E0A04AEC
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-D951A2EC-B0DE-4A8C-A5DC-61C2E0A04AEC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36859420-D951A2EC-B0DE-4A8C-A5DC-61C2E0A04AEC
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wasDerivedFrom
a6af9474864390acbfefc3c59b99b1c1ed245dbf
P2860
Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.