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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAPSN

Variant:p.V50_T51Fs

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RAPSN

NM_005055.5:p.V50_T51Fs

hg38:chr11:47448812 TGTGA>CCATCTCCTTGTAGCGGCCCATCT

Associated Papers

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )

Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

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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."