Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.L69V
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KCTD7

NM_153033.5:p.L69V

Associated Papers

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

Yoganathan S et al.

Epilepsia, 2024

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.

Narayanan DL et al.

Clinical Dysmorphology, 2022

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Narayanan DL et al.

European Journal of Human Genetics : Ejhg, 2021

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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."