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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITM2B

Variant:p.S266fs

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ITM2B

NM_021999.5:p.S266fs

hg38:chr13:48261219 TCT>N

Associated Papers

DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.

Nassisi M et al.

Retina (philadelphia, Pa.), 2021

32826790 (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."