Varaico: Literature-Extracted Genetic Variants

Gene:CORO1A
Variant:p.L235V
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CORO1A

NM_007074.4:p.L235V

Associated Papers

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.

Sprenkeler EGG et al.

Journal of Innate Immunity, 2021

Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.

Miao Y et al.

Frontiers in Immunology, 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."