Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.K785M
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CACNA1H

NM_021098.3:p.K785M

Associated Papers

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients.

Baird DA et al.

Human Genetics, 2024

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.

Maksemous N et al.

Molecular Neurobiology, 2023

36786913 (PubMed )
Supplement: 12035_2023_3255_MOESM1_ESM.xlsx › Supplementary_Table_1

Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.

Viggiano M et al.

Frontiers in Psychiatry, 2022

Contribution of rare genetic variants to drug response in absence epilepsy.

Myers KA et al.

Epilepsy Research, 2021

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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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."