Fig. 1: Graphical presentation of results. | European Journal of Human Genetics

Fig. 1: Graphical presentation of results.

From: Modifier variants in metabolic pathways are associated with an increased penetrance of Leber’s Hereditary Optic Neuropathy

Fig. 1

Analysis pipeline (A), functional distribution of rare variants based on Mitocarta 3.0 [39] (B), rare variant distribution by variant type (C), functional distribution of rare pathogenic variants based on Mitocarta 3.040 (D). Error bars represent the standard errors calculated assuming binomial distribution. Categories I-VII represent: mitochondrial complex assembly and function (I), mitochondrial transport and homoeostasis (II), mitochondrial fusion, fission and mitophagy (III), mitochondrial DNA and RNA processing (IV), metabolism (V), cellular structure and transport (VI) and other regulatory function (VII).

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