Varaico: Literature-Extracted Genetic Variants

Gene:ATF6
Variant:p.E162Splc
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ATF6

NM_007348.4:p.E162Splc

Associated Papers

BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients.

Teocchi MA et al.

Immunity, Inflammation and Disease, 2015

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

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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."