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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC5A7

Variant:p.G81insFs

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SLC5A7

NM_021815.5:p.G81insFs

hg38:chr2:107992167 T>TG

Associated Papers

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT et al.

Genome Medicine, 2023

37946251 (PubMed )

Supplement: 13073_2023_1240_MOESM2_ESM.docx

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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."