Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.L42I
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PRH1

NM_001393989.1:p.L42I

Associated Papers

Identification of Characteristic Genomic Markers in Human Hepatoma HuH-7 and Huh7.5.1-8 Cell Lines.

Kawamoto M et al.

Frontiers in Genetics, 2020

33193621 (PubMed )
Supplement: Data_Sheet_1.xlsx › Candidate_Gene_Detail

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.

Inoue H et al.

Pediatric Blood & Cancer, 2017

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Tode N et al.

Cancer Science, 2017

28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224

Comparative whole genome sequence analysis of wild-type and cidofovir-resistant monkeypoxvirus.

Farlow J et al.

Virology Journal, 2010

Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations.

Takagi A et al.

International Journal of Hematology, 2009

Mutational analysis of the p53 core domain L1 loop.

Zupnick A et al.

The Journal of Biological Chemistry, 2006

Identification and characterization of KAT, a novel gene preferentially expressed in several human cancer cell lines.

Wenzel K et al.

Biological Chemistry, 2003

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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."