Danielle Demarzo to Humans
This is a "connection" page, showing publications Danielle Demarzo has written about Humans.
Connection Strength
0.029
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med. 2021 05; 23(5):881-887.
Score: 0.010
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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet. 2020 05 07; 106(5):623-631.
Score: 0.009
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The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat. 2020 03; 41(3):591-599.
Score: 0.009