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Fig. 3 | BMC Medical Genetics

Fig. 3

From: KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature

Fig. 3

Conservation analysis and protein altering mutations of KIAA1109. a conservation analysis showing the conservation of p.Thre811Ala mutation of KIAA1109 identified in this study across species. b Depiction of known mutations and novel mutation identified in this study causing Alkuraya-Kucinskas syndrome. Mutations shown in red are the mutations in surviving patients and those shown in black are the mutations identified in patients with fetal demises and neonatal deaths

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BMC Medical Genetics

ISSN: 1471-2350

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