Varaico: Literature-Extracted Genetic Variants

Gene:KRT7
Variant:p.R167W
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KRT7

NM_005556.4:p.R167W

Associated Papers

Von Hippel-Lindau Disease-Associated Endolymphatic Sac Tumours: Seven Cases and Genotype-Phenotype Features.

Wang Q et al.

Current Oncology (toronto, Ont.), 2025

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S12_SNV_indel

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Yasuda M et al.

Molecular Genetics and Metabolism, 2019

[Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene].

Su Y et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2013

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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."