Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.P61T
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VHL

NM_000551.4:p.P61T

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.

Serghini A et al.

Human Molecular Genetics, 2024

37883464 (PubMed )
Supplement: supplementary_tables_marked_edit_ddad181.xlsx › Supplementary_Table_2

Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia.

Singhi AD et al.

Gut, 2018

28970292 (PubMed )
Supplement: gutjnl-2016-313586supp002.pdf
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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."