Varaico: Literature-Extracted Genetic Variants

Gene:KCND2
Variant:p.R422*
Back to variants list

KCND2

NM_012281.3:p.R422*

Associated Papers

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Petrin AL et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.

Bard AM et al.

American Journal of Medical Genetics. Part A, 2024

Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.

Petrin AL et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.

Bard AM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."