Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN1
Variant:p.G1748R
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SPTBN1

NM_003128.3:p.G1748R

Associated Papers

A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants.

Jang HN et al.

Genes, 2025

40869952 (PubMed )
Supplement: genes-16-00904-s001.zip › genes-3749915-supplementary.xlsx › Sheet1

Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention-deficit/hyperactivity disorder.

O'Connell M et al.

American Journal of Medical Genetics. Part A, 2025

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM4_ESM.xls › Supp._Data_3
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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."