BRENDAN LEE to Haploinsufficiency
This is a "connection" page, showing publications BRENDAN LEE has written about Haploinsufficiency.
Connection Strength
0.331
-
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome. Hum Mol Genet. 2022 04 22; 31(8):1325-1335.
Score: 0.167
-
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5.
Score: 0.085
-
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.040
-
Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.039