Varaico: Literature-Extracted Genetic Variants

Gene:ATF6B
Variant:p.D12N
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ATF6B

NM_004381.5:p.D12N

Associated Papers

Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.

Hsu AP

Clinical and Experimental Immunology, 2023

Multiple Hotspot Mutations Scanning by Single Droplet Digital PCR.

Decraene C et al.

Clinical Chemistry, 2018

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T et al.

Journal of Human Genetics, 2011

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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."