Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.E506*
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TSHR

NM_000369.5:p.E506*

Associated Papers

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_S7

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Griswold AJ et al.

Molecular Autism, 2015

26185613 (PubMed )
Supplement: 13229_2015_34_MOESM3_ESM.xlsx › Sheet1
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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."