Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.E690*
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CLCN2

NM_004366.6:p.E690*

Associated Papers

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Manisha KY et al.

Neurology. Genetics, 2024

Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.

Nóbrega PR et al.

Brain Communications, 2024

Seizures and central vestibular nystagmus as the initial presentation of leukoencephalopathy with ataxia (LKPAT).

Nandana J et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

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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."