Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1B
Variant:p.M1ins16
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CACNA1B

NM_000718.4:p.M1ins16

Associated Papers

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.

Chen Q et al.

Bmc Medical Genomics, 2025

41163060 (PubMed )
Supplement: 12920_2025_2248_MOESM1_ESM.xlsx › Sheet1

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Fasano G et al.

Nature Communications, 2022

36369169 (PubMed )
Supplement: 41467_2022_34354_MOESM1_ESM.pdf

Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses.

Jeong N et al.

Npj Genomic Medicine, 2022

35853873 (PubMed )
Supplement: 41525_2022_313_MOESM3_ESM.xlsx › Supplementary_Data_2e

Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.

Pandey K et al.

Genes, 2021

33504001 (PubMed )
Supplement: genes-12-00159-s001.zip › genes_-_1049728_-_supplementary › supplementary_tables.xlsx › STable1

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
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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."