Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.I132L
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AAGAB

NM_024666.5:p.I132L

Associated Papers

Exome variants associated with asthma and allergy.

Wjst M

Scientific Reports, 2022

36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.

Dinani N et al.

Clinical and Experimental Dermatology, 2017

Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.

Koire A et al.

Plos One, 2017

28350864 (PubMed )
Supplement: pone.0174766.s004.xlsx › Sheet1
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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."