Varaico: Literature-Extracted Genetic Variants

Gene:RETNLB
Variant:p.P20L
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RETNLB

NM_032579.3:p.P20L

Associated Papers

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Reimann E et al.

Human Genomics, 2014

25496518 (PubMed )
Supplement: 40246_2014_20_MOESM1_ESM.xlsx › Sheet1

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s005.pdf

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Torella A et al.

Plos One, 2013

23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all
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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."