Varaico: Literature-Extracted Genetic Variants

Gene:ARNT2
Variant:p.G49Splc
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ARNT2

NM_014862.4:p.G49Splc

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S et al.

Frontiers in Genetics, 2020

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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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."