Varaico: Literature-Extracted Genetic Variants

Gene:GLIS3
Variant:p.K530*
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GLIS3

NM_001042413.2:p.K530*

Associated Papers

Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.

Ye L et al.

Frontiers in Pediatrics, 2023

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Park KS

Genes, 2021

34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S6

Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.

Zheng Z et al.

Annals of Translational Medicine, 2020

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Fan X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."