Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN4
Variant:p.R246P
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SPTBN4

NM_020971.3:p.R246P

Associated Papers

Spectrins: molecular organizers and targets of neurological disorders.

Lorenzo DN et al.

Nature Reviews. Neuroscience, 2023

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

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

Buelow M et al.

European Journal of Human Genetics : Ejhg, 2021

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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."