IMAGE

Fig. 1

ID
ZDB-IMAGE-200814-11
Source
Figures for Asselin et al., 2020
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Figure Caption

Fig. 1 Patients with <italic>KIF21B</italic> variants.

ad Pedigrees of patients with identified KIF21B variants. eg Sagittal brain section of patient’s MRI showing a complete agenesis of the corpus callosum in patient 1 (e, red arrow) and microcephaly in patient 2 (f). h Schematic representation of the human KIF21B (hKIF21B) protein indicating the different domains (motor domain, ATP binding site, coiled-coil domain (CC) 1 and 2, regulatory coiled-coil domain (rCC) and WD40 domain) and the position of the mutated amino acids for patient 1 (p.Ile678Leu), 2 (p.Gln313Lys), 3 (p.Ala1001Thr) and 4 (p.Asn988SerfsX4). T96N substitution that abolishes KIF21B mobility is also depicted.

Acknowledgments
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