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Fig. 1

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ZDB-FIG-241209-1

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Park et al., 2024 - RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model

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Fig. 1

WS patients with 7q11.23 microdeletions and RFC2 intragenic deletions. A: Five WS patients (P1–P5) with typical 7q11.23 microdeletions. Chromosomal microarray test detected 1.4 Mb–1.5 Mb microdeletions including RFC2. We also identified one patient (P6) with a smaller 167 kb deletion, comprising RFC2 but not ELN. B: Patients (P7–P10) with RFC2 intragenic microdeletions. RFC2 consists of 11 exons (1–11), spanning ∼23 kb. C: Comparison of human RFC2 (NP_852136.1) with zebrafish Rfc2 (NP_001013344.2) and human RFC5 (NP_031396.1) with zebrafish Rfc5 (NP_001003862.1). All four have an AAA domain and a Repl C domain in common. The zebrafish rfc2 encodes 353-aa protein, with a high level of similarity (90%) to the human RFC2 protein and the zebrafish rfc5 encodes 334-aa protein, with a high level of similarity (91%) to the human RFC5 protein. aa, amino-acid; Repl C, Replication factor C C-terminal domain; AAA, AAA⁺ ATPase domain.

Expression Data

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Antibody Labeling

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Reprinted from Journal of genetics and genomics = Yi chuan xue bao, 51(12), Park, J.W., Choi, T.I., Kim, T.Y., Lee, Y.R., Don, D.W., George-Abraham, J.K., Robak, L.A., Trandafir, C.C., Liu, P., Rosenfeld, J.A., Kim, T.H., Petit, F., Kim, Y.M., Cheon, C.K., Lee, Y., Kim, C.H., RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model, 1389-1403, Copyright (2024) with permission from Elsevier. Full text @ J. Genet. Genomics