Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.T287_W288del1
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KCTD7

NM_153033.5:p.T287_W288del1

Associated Papers

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

Yoganathan S et al.

Epilepsia, 2024

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Mastrangelo M et al.

European Journal of Medical Genetics, 2019

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Kousi M et al.

Journal of Medical Genetics, 2012

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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."