Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.P221_T222Splc
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NUP214

NM_005085.4:p.P221_T222Splc

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

Thyroglobulin gene mutations in congenital hypothyroidism.

Targovnik HM et al.

Hormone Research in Paediatrics, 2011

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."