FIGURE

Fig. 1

ID

ZDB-FIG-240604-7

Publication

De Pace et al., 2023 - Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Other Figures

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Fig. 1

Family pedigrees and photographs of the patients. (A) Family pedigrees and genotypes. BORCS8 variants are indicated, with Dup corresponding to the c.71-75dupTGGCC (p.Asn26Trpfs*51) variant, and T/C and A/C to the T>C and A>C single-base substitution variants, respectively. (B) Photographs of the patients at the indicated ages.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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