Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.R131H
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KCNK9

NM_001282534.2:p.R131H

Associated Papers

Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.

Dsouza NR et al.

International Journal of Molecular Sciences, 2024

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Cousin MA et al.

Genome Medicine, 2022

Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.

Krgovic D et al.

Frontiers in Molecular Neuroscience, 2022

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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."