Varaico: Literature-Extracted Genetic Variants

Gene:KIF21A
Variant:p.D1001del1
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KIF21A

NM_001173464.2:p.D1001del1

Associated Papers

Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.

Chen M et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023

TUBB3 and KIF21A in neurodevelopment and disease.

Puri D et al.

Frontiers in Neuroscience, 2023

Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.

Cheng L et al.

Neuron, 2014

KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.

Wang P et al.

International Journal of Molecular Medicine, 2011

KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran.

Ramahi M et al.

Avicenna Journal of Medical Biotechnology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."