Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.G256R
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NBEAL2

NM_015175.3:p.G256R

Associated Papers

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

Shinde V et al.

Human Molecular Genetics, 2021

Congenital platelet disorders and understanding of platelet function.

Nurden AT et al.

British Journal of Haematology, 2014

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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."