Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.L688P
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RB1

NM_000321.3:p.L688P

Associated Papers

A pilot study of on-site evaluation as external quality assessment for ISO 15189 accreditation of laboratories performing next-generation sequencing oncology tests.

Ravzanaadii M et al.

Journal of Clinical Laboratory Analysis, 2023

Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Kalsoom S et al.

Molecular Vision, 2015

Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by "exon by exon" PCR mediated SSCP analysis.

Braggio E et al.

Journal of Clinical Pathology, 2004

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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."