Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1866D
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RP1L1

NM_178857.6:p.E1866D

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin.

Beird HC et al.

Cold Spring Harbor Molecular Case Studies, 2018

29610390 (PubMed )
Supplement: supp_mcs.a002386_Supplemental_Tables.xlsx › Table_S1A

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Genomic and epigenomic analysis of high-risk prostate cancer reveals changes in hydroxymethylation and TET1.

Spans L et al.

Oncotarget, 2016

27014907 (PubMed )
Supplement: oncotarget-07-24326-s004.xlsx › Blad1
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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."