Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.R18Q
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KIF1B

NM_001365951.3:p.R18Q

Associated Papers

Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.

Zhou ZD et al.

Molecular Neurobiology, 2017

Neuroblast differentiation during development and in neuroblastoma requires KIF1Bβ-mediated transport of TRKA.

Fell SM et al.

Genes & Development, 2017

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Herdewyn S et al.

Human Molecular Genetics, 2012

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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."