Varaico: Literature-Extracted Genetic Variants

Gene:ANG
Variant:p.I70V
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ANG

NM_001097577.3:p.I70V

Associated Papers

A Neglected Gene: The Role of the ANG Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis.

Zhang Y et al.

Aging and Disease, 2024

Molecular subtypes of ALS are associated with differences in patient prognosis.

Eshima J et al.

Nature Communications, 2023

36609402 (PubMed )
Supplement: 41467_2022_35494_MOESM12_ESM.xlsx › PatientLabelAssignment

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis.

Riva N et al.

Frontiers in Neuroscience, 2022

Assessment of ANG variants in Parkinson's disease.

Grenn FP et al.

Neurobiology of Aging, 2021

Microglia RAGE exacerbates the progression of neurodegeneration within the SOD1G93A murine model of amyotrophic lateral sclerosis in a sex-dependent manner.

MacLean M et al.

Journal of Neuroinflammation, 2021

34130712 (PubMed )
Supplement: 12974_2021_2191_MOESM2_ESM.xlsx › SupplementalTable1.4

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.

McCann EP et al.

Journal of Medical Genetics, 2020

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Keogh MJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

29332010 (PubMed )
Supplement: jnnp-2017-317234supp001.pdf

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_Benign

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP et al.

Human Mutation, 2013

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.

Fernández-Santiago R et al.

Journal of Neurology, 2009

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

Greenway MJ et al.

Nature Genetics, 2006

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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."