Associated Papers
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Welters A et al.
Orphanet Journal of Rare Diseases, 2023
37974153 (PubMed )
Supplement: 13023_2023_2954_MOESM1_ESM.pdf
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.
Yu HC et al.
Cold Spring Harbor Molecular Case Studies, 2016
27148590 (PubMed )
Supplement: supp_mcs.a000844_SuppTable1.xlsx › Sheet1
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