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Q36859420-2B68863E-5016-4E0D-A108-F5F20DB950DD
Q36859420-2B68863E-5016-4E0D-A108-F5F20DB950DD
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http://www.wikidata.org/entity/statement/Q36859420-2B68863E-5016-4E0D-A108-F5F20DB950DD
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
Q36859420-2B68863E-5016-4E0D-A108-F5F20DB950DD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36859420-2B68863E-5016-4E0D-A108-F5F20DB950DD
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wasDerivedFrom
a6af9474864390acbfefc3c59b99b1c1ed245dbf
P2860
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1