Varaico: Literature-Extracted Genetic Variants

Gene:PLCB1
Variant:p.D33_D34Splc
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PLCB1

NM_015192.4:p.D33_D34Splc

Associated Papers

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.

Desprairies C et al.

Clinical Genetics, 2020

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.

Ngoh A et al.

Developmental Medicine and Child Neurology, 2014

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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."