Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.D115fs
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KCTD7

NM_153033.5:p.D115fs

Associated Papers

KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.

Sangeeth TA et al.

Seizure, 2026

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Thuppanattumadam Ananthasubramanian S et al.

Journal of the Neurological Sciences, 2025

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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."