Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1D
Variant:p.I750F
Back to variants list

CACNA1D

NM_001128840.3:p.I750F

Associated Papers

Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.

Tang X et al.

European Journal of Human Genetics : Ejhg, 2024

38553610 (PubMed )
Supplement: 41431_2024_1594_MOESM10_ESM.xlsx › rank2023

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Nanba K et al.

Frontiers in Endocrinology, 2021

Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.

Fernandes-Rosa FL et al.

Hypertension (dallas, Tex. : 1979), 2014

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."