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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Fig. 3

In silico analysis of the p.Ile418Thr variant. a Alignment of amino acid sequences among various species; the position of the mutant residue within the highly conserved region is indicated in red. b, c Homology models of the WT ERBB3 (b) and p.Ile418Thr mutant ERBB3 (c) N-terminal tails of the extracellular domain. Residue at position 418 is shown in yellow

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