Varaico: Literature-Extracted Genetic Variants

Gene:KCND1
Variant:p.R431C
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KCND1

NM_004979.6:p.R431C

Associated Papers

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Kalm T et al.

American Journal of Human Genetics, 2024

38772379 (PubMed )
Supplement: mmc1.pdf

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Pollini L et al.

International Journal of Molecular Sciences, 2020

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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."