Varaico: Literature-Extracted Genetic Variants

Gene:RBMX
Variant:p.P105fs
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RBMX

NM_002139.4:p.P105fs

Associated Papers

Retinoblastoma from human stem cell-derived retinal organoids.

Norrie JL et al.

Nature Communications, 2021

34315877 (PubMed )
Supplement: 41467_2021_24781_MOESM7_ESM.xlsx › WGS_organoid_tumors

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.

Wakil SM et al.

Bmc Medical Genetics, 2019

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s005.xlsx › 24_Caucasian_controls

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.truncation
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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."