Varaico: Literature-Extracted Genetic Variants

Gene:RNF135
Variant:p.R115K
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RNF135

NM_032322.4:p.R115K

Associated Papers

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.

Pacot L et al.

Bmc Medical Genomics, 2024

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 › Patient_1_late_met_2

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.

Tastet J et al.

Psychiatric Genetics, 2015

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Visser R et al.

American Journal of Medical Genetics. Part A, 2009

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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."