Varaico: Literature-Extracted Genetic Variants

Gene:ANG
Variant:p.K41I
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ANG

NM_001097577.3:p.K41I

Associated Papers

Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.

Khurana S et al.

Brain Communications, 2026

41574092 (PubMed )
Supplement: fcag003_supplementary_data.zip › Supplementary_Tables_S1-S6.xlsx › Supplemental_Table_S4

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

Zhang Y et al.

Aging and Disease, 2024

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

Assessment of ANG variants in Parkinson's disease.

Grenn FP et al.

Neurobiology of Aging, 2021

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

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.

Narain P et al.

Neurobiology of Aging, 2018

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Garton FC et al.

Molecular Genetics & Genomic Medicine, 2017

28717666 (PubMed )
Supplement: MGG3-5-418-s001.xlsx › SuppTable_3_

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

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 › Pathogenicity_questioned

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Cady J et al.

Annals of Neurology, 2015

Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.

Testi S et al.

Journal of Alzheimer's Disease : Jad, 2015

Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.

Vuong H et al.

Genome Medicine, 2014

25360158 (PubMed )
Supplement: 13073_2014_81_MOESM1_ESM.xlsx › Table_S1

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

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

van Blitterswijk M et al.

Current Opinion in Neurology, 2012

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.

Millecamps S et al.

Journal of Medical Genetics, 2012

Genetic overlap between apparently sporadic motor neuron diseases.

van Blitterswijk M et al.

Plos One, 2012

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Millecamps S et al.

Journal of Medical Genetics, 2010

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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