Varaico: Literature-Extracted Genetic Variants

Gene:IGFN1
Variant:p.R565L
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IGFN1

NM_001164586.2:p.R565L

Associated Papers

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Grant AD et al.

Scientific Reports, 2019

31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1
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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."