Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L1
Variant:p.V122I
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DNASE1L1

NM_001303620.2:p.V122I

Associated Papers

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Evaluation of all nonsynonymous single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 1, possibly implicated in the blocking of endocytosis-mediated foreign gene transfer.

Ueki M et al.

Dna and Cell Biology, 2014

Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.

Fujihara J et al.

Electrophoresis, 2010

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

Sun Y et al.

American Journal of Human Genetics, 2010

Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes.

Ueki M et al.

Electrophoresis, 2010

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