Varaico: Literature-Extracted Genetic Variants

Gene:TNR
Variant:p.N180H
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TNR

NM_003285.3:p.N180H

Associated Papers

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Salemi M et al.

Biomedicines, 2023

Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.

Kaur S et al.

Journal of Cell Communication and Signaling, 2021

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092

Homozygous deletion of Tenascin-R in a patient with intellectual disability.

Dufresne D et al.

Journal of Medical Genetics, 2012

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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."