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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CARNS1

Variant:p.Q559*

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CARNS1

NM_001166222.2:p.Q559*

hg38:chr11:67423423 C>T

Associated Papers

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Arno G et al.

American Journal of Human Genetics, 2016

27889058 (PubMed )

Supplement: mmc1.pdf

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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."