Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.T336_T337del1
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NBN

NM_002485.5:p.T336_T337del1

Associated Papers

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

[DUOX2 mutations in children with congenital hypothyroidism].

Chai J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].

Lü ZP et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."