Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN4
Variant:p.A2145T
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SPTBN4

NM_020971.3:p.A2145T

Associated Papers

Spectrins: molecular organizers and targets of neurological disorders.

Lorenzo DN et al.

Nature Reviews. Neuroscience, 2023

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.

Buelow M et al.

European Journal of Human Genetics : Ejhg, 2021

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D et al.

American Journal of Human Genetics, 2019

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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."