ZFIN Image: Bertino et al., 2026, Fig. 1

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Figure Caption

Fig. 1 A Multiple scars, ulcers and mutilations of hands and feet of patient 6 carrying the c.704 C > A (p.Ser235Tyr) and c.1369 G > A (p.Glu457Lys) variants. B Amputation of the distal tips of most fingers due to pain insensitivity in patients 7 carrying (c.1193 A > G; p.Tyr398Cys) variant and a pathogenic pseudogene insertion in intron 8 of the FLVCR1 gene. C Retinal examination of patient 7 showing retinitis pigmentosa. D Cartoon representation of the AlphaFold structure prediction model of hFLVCR1a. The missense variants described in this work are highlighted in color: p.Tyr398Cys (purple), p.Ser235Tyr (orange), E457 (green). E Detail showing the position of the p.Ser235Tyr mutation (blu). Figures D–E were prepared using ChimeraX⁷⁶.

Acknowledgments

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