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Publication: Dominik et al., 2025 - Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
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Figure 1 Schematic representation of ARHGAP19 and genetic findings.

(A) Pathway showing GTPase-activating proteins (GAPs) such as ARHGAP19 responsible for promoting cycling of Rho GTPases between the active GTP-bound and the inactive GDP-bound conformations. GEF, Guanine nucleotide Exchange Factor; GDP, Guanine nucleotide diphosphate; GDI, Guanine Nucleotide Dissociation Inhibitor; Pi, dihydrogen phosphate. (B and C) Schematic diagrams of ARHGAP19 gene (B) and protein (C). Introns are not to scale. Exon numbers are according to the canonical transcript (NM_001136035). Amino acid changes are according to the reference sequence NP_001129507.

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