Varaico: Literature-Extracted Genetic Variants

Gene:NPEPPS
Variant:p.G322D
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NPEPPS

NM_006310.4:p.G322D

Associated Papers

Model-based analysis uncovers mutations altering autophagy selectivity in human cancer.

Han Z et al.

Nature Communications, 2021

34059679 (PubMed )
Supplement: 41467_2021_23539_MOESM6_ESM.xlsx › Supplementary_Data_3

RBM10 Deficiency Is Associated With Increased Immune Activity in Lung Adenocarcinoma.

Liu B et al.

Frontiers in Oncology, 2021

34367963 (PubMed )
Supplement: Table_3.xlsx › Table_S3

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iWT1_2_

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__Potential_pathogenic

Evaluating Tumor Evolution via Genomic Profiling of Individual Tumor Spheroids in a Malignant Ascites.

Kim S et al.

Scientific Reports, 2018

30143682 (PubMed )
Supplement: 41598_2018_31097_MOESM6_ESM.xlsx › Sheet1

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM et al.

Cilia, 2016

27069622 (PubMed )
Supplement: 13630_2016_29_MOESM1_ESM.xls › Total_variants

Single-cell mRNA sequencing identifies subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells.

Kim KT et al.

Genome Biology, 2015

26084335 (PubMed )
Supplement: 13059_2015_692_MOESM2_ESM.xls › Xeno_pooled
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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."