Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.P408S
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KCNB1

NM_004975.4:p.P408S

Associated Papers

A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.

Veale EL et al.

Frontiers in Pharmacology, 2022

Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder.

Xiong J et al.

Frontiers in Pediatrics, 2021

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

Nashabat M et al.

Seizure, 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."