Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.P377A
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ADAR

NM_001111.5:p.P377A

Associated Papers

A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review.

Ge H et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing.

Ma Q et al.

Frontiers in Pediatrics, 2023

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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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."