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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRAT

Variant:p.G35R

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LRAT

NM_004744.5:p.G35R

hg38:chr4:154744429 G>A

Associated Papers

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

Littink KW et al.

Ophthalmology, 2012

22559933 (PubMed )

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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."