Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C2375S
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VWF

NM_000552.5:p.C2375S

Associated Papers

Genetic profiling of synchronous pituitary corticotroph adenomas.

Zhang D et al.

Pituitary, 2025

40544420 (PubMed )
Supplement: 11102_2025_1549_MOESM1_ESM.xlsx › VarscanCommonsnpSomatichcbyWeih

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

Application of organoid culture from HPV18-positive small cell carcinoma of the uterine cervix for precision medicine.

Kusakabe M et al.

Cancer Medicine, 2023

36691316 (PubMed )
Supplement: CAM4-12-8476-s004.xlsx › Sheet1
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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."