Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.P640L
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CACNA1H

NM_021098.3:p.P640L

Associated Papers

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

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

A Systematic Screening of ADHD-Susceptible Variants From 25 Chinese Parents-Offspring Trios.

Li Q et al.

Frontiers in Genetics, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.

Leoni G et al.

Vaccines, 2021

34452005 (PubMed )
Supplement: vaccines-09-00880-s001.zip › SupplementaryTable1.xlsx › 4007

Recurrence of Primary Aldosteronism 10 Years After Left Adrenalectomy for Aldosterone-Producing Adenoma: A Case Report.

Kong L et al.

Frontiers in Endocrinology, 2021

Association of a genetic variant in ATP-binding cassette sub-family B member 1 gene with poor prognosis in patients with squamous cell carcinoma of the esophagus.

Rastgar-Moghadam A et al.

Iubmb Life, 2019

Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.

Glauser TA et al.

Annals of Neurology, 2017

Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.

Liang J et al.

Annals of Human Genetics, 2007

New variants in the CACNA1H gene identified in childhood absence epilepsy.

Liang J et al.

Neuroscience Letters, 2006

Association between genetic variation of CACNA1H and childhood absence epilepsy.

Chen Y et al.

Annals of Neurology, 2003

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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."