Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.R659Q
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NBEAL2

NM_015175.3:p.R659Q

Associated Papers

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Lassandro G et al.

Frontiers in Pediatrics, 2022

36507135 (PubMed )
Supplement: Table1.xlsx › Sheet1

Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.

Shinde V et al.

Human Molecular Genetics, 2021

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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."