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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCAF8

Variant:p.M918I

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SCAF8

NM_014892.5:p.M918I

hg38:chr6:154832333 G>A

Associated Papers

A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.

Jafari Khamirani H et al.

Frontiers in Genetics, 2022

36276950 (PubMed )

Supplement: Table1.XLSX › Variant_annotation

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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."