Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.K775*
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BICD2

NM_001003800.2:p.K775*

Associated Papers

Diverse Roles of the LINC Complex in Cellular Function and Disease in the Nervous System.

Kuwako KI et al.

International Journal of Molecular Sciences, 2024

Expanding association between BICD2 variants and brain malformations and associated lissencephaly.

Cho J et al.

Clinical and Experimental Pediatrics, 2024

Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.

Yi J et al.

Plos Genetics, 2023

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.

Abdel-Salam GMH et al.

Journal of Human Genetics, 2022

Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.

Tsai MH et al.

Acta Neuropathologica Communications, 2020

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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."