Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1B
Variant:p.G165V
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CACNA1B

NM_000718.4:p.G165V

Associated Papers

Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.

Gentien D et al.

Cell Reports, 2023

37708024 (PubMed )
Supplement: NIHMS1933915-supplement-3.xlsx › Supp_table_2

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

Unravelling genetic variants of a swedish family with high risk of prostate cancer.

Barilla S et al.

Hereditary Cancer in Clinical Practice, 2022

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation.

Brohl AS et al.

Scientific Reports, 2017

29118384 (PubMed )
Supplement: 41598_2017_15183_MOESM1_ESM.pdf

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Zeltner N et al.

Nature Medicine, 2016

27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
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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."