Varaico: Literature-Extracted Genetic Variants

Gene:KIF2A
Variant:p.H321P
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KIF2A

NM_001098511.3:p.H321P

Associated Papers

Connecting neurodevelopment to neurodegeneration: a spotlight on the role of kinesin superfamily protein 2A (KIF2A).

Ruiz-Reig N et al.

Neural Regeneration Research, 2024

Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.

Hatano M et al.

American Journal of Medical Genetics. Part A, 2021

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

Broix L et al.

Human Molecular Genetics, 2018

Recurrent KIF2A mutations are responsible for classic lissencephaly.

Cavallin M et al.

Neurogenetics, 2017

Modeling Neurodevelopmental Disorders and Epilepsy Caused by Loss of Function of kif2a in Zebrafish.

Partoens M et al.

Eneuro, 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."