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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRX

Variant:p.D265V

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CRX

NM_000554.6:p.D265V

hg38:chr19:47839861 A>T

Associated Papers

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.

Shepherdson JL et al.

Biorxiv : the Preprint Server for Biology, 2024

38585983 (PubMed )

Supplement: NIHPP2024.03.21.585809V1-supplement-1.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."