Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN4
Variant:p.E532K
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SPTBN4

NM_020971.3:p.E532K

Associated Papers

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

AlQudairy H et al.

Orphanet Journal of Rare Diseases, 2025

40781329 (PubMed )
Supplement: 13023_2025_3810_MOESM2_ESM.xlsx › Supp._Table_1

Whole-exome sequencing for variant discovery in blepharospasm.

Tian J et al.

Molecular Genetics & Genomic Medicine, 2018

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-7.xlsx › S_Data_6
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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."