Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1B
Variant:p.K89E
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CACNA1B

NM_000718.4:p.K89E

Associated Papers

Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.

Salamon A et al.

International Journal of Molecular Sciences, 2023

37445923 (PubMed )
Supplement: ijms-24-10745-s001.zip › ijms-2457225-supplementary.pdf

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex

Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use.

Loke MF et al.

Journal of Pain Research, 2019

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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."