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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBTPS2

Variant:p.S118delFs

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MBTPS2

NM_015884.4:p.S118delFs

hg38:chrX:21845298 TC>T

Associated Papers

Pathomechanisms of ATF6-Associated Cone Photoreceptor Diseases.

Chiang WJ et al.

Advances in Experimental Medicine and Biology, 2019

31884629 (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."