Varaico: Literature-Extracted Genetic Variants

Gene:CFAP99
Variant:p.H527R
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CFAP99

NM_001193282.4:p.H527R

Associated Papers

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Genetic Investigation of Inverse Psoriasis.

Göblös A et al.

Life (basel, Switzerland), 2021

34357026 (PubMed )
Supplement: life-11-00654-s001.zip › life-1257310-SI.pdf

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › 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."