Daniela Del Gaudio to Loss of Function Mutation
This is a "connection" page, showing publications Daniela Del Gaudio has written about Loss of Function Mutation.
Connection Strength
0.769
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Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.
Score: 0.726
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Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020 05; 41(5):884-905.
Score: 0.043