Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN5
Variant:p.H89P
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SPTBN5

NM_016642.4:p.H89P

Associated Papers

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 2025

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.

Khan A et al.

Frontiers in Molecular Neuroscience, 2022

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures.

Beijer D et al.

Frontiers in Molecular Neuroscience, 2022

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures.

Van De Vondel L et al.

Frontiers in Molecular Neuroscience, 2022

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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."