Varaico: Literature-Extracted Genetic Variants

Gene:SAMD11
Variant:p.R793*
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SAMD11

NM_001385641.1:p.R793*

Associated Papers

Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.

Puertas-Neyra K et al.

Stem Cell Research & Therapy, 2024

Computational and Experimental Analysis of Genetic Variants.

Prokop JW et al.

Comprehensive Physiology, 2022

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.

Corton M et al.

Scientific Reports, 2016

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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."