Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.G100E
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AGA

NM_000027.4:p.G100E

Associated Papers

Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.

Heng AHS et al.

Bmc Medical Genomics, 2021

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Higher-order septin assembly is driven by GTP-promoted conformational changes: evidence from unbiased mutational analysis in Saccharomyces cerevisiae.

Weems AD et al.

Genetics, 2014

Structural basis of aspartylglucosaminuria.

Saito S et al.

Biochemical and Biophysical Research Communications, 2008

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

Saarela J et al.

Human Molecular Genetics, 2001

Aspartylglycosaminuria: biochemistry and molecular biology.

Aronson NN

Biochimica Et Biophysica Acta, 1999

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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."