Varaico: Literature-Extracted Genetic Variants

Gene:PIDD1
Variant:p.R682C
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PIDD1

NM_145886.4:p.R682C

Associated Papers

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Zhang C et al.

Nature, 2025

39743596 (PubMed )
Supplement: 41586_2024_8341_MOESM1_ESM.pdf

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Vettore AL et al.

Genome Medicine, 2015

26395002 (PubMed )
Supplement: 13073_2015_219_MOESM4_ESM.xls › Plan1
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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."