Varaico: Literature-Extracted Genetic Variants

Gene:REEP6
Variant:p.A150fs
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REEP6

NM_138393.4:p.A150fs

Associated Papers

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.

Zhang L et al.

Genes, 2021

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

Méjécase C et al.

Clinical Genetics, 2018

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Arno G et al.

American Journal of Human Genetics, 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."