Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.R531H
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CACNA1S

NM_000069.3:p.R531H

Associated Papers

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.

Quaio CRD'C et al.

Scientific Reports, 2022

35546177 (PubMed )
Supplement: 41598_2022_11932_MOESM1_ESM.xlsx › Supplementary_Table_-_Data

Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder.

Wang C et al.

Translational Psychiatry, 2022

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.

Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Hu Y et al.

Frontiers in Endocrinology, 2021

34054720 (PubMed )
Supplement: Table_1.xlsx › Sheet1
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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."