Publications:

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Molecular Mechanisms in Autoimmune Thyroid Disease.

Cells

Vargas-Uricoechea, Hernando H

Publication Date: 2023-03-16

Variant appearance in text: rs2076739

PubMed Link: 36980259

Variant Present in the following documents:

• Main text
• cells-12-00918.pdf

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Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Matsuyama, Misayo M; Sawada, Hirotake H; Inoue, Shinobu S; Hishinuma, Akira A; Sekiya, Ryo R; Sato, Yuichiro Y; Moritake, Hiroshi H

Publication Date: 2022

Variant appearance in text: TG: Cys1996Ser

PubMed Link: 35928386

Variant Present in the following documents:

• Main text
• cpe-31-185.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: TG: 5986T>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Single nucleotide polymorphism 1623 A/G (rs180195) in the promoter of the Thyroglobulin gene is associated with autoimmune thyroid disease but not with thyroid ophthalmopathy.

Clinical Ophthalmology (Auckland, N.Z.)

Lahooti, Hooshang H; Edirimanne, Senarath S; Walsh, John P JP; Delbridge, Leigh L; Hibbert, Emily J EJ; Wall, Jack R JR

Publication Date: 2017

Variant appearance in text: rs2076739

PubMed Link: 28794611

Variant Present in the following documents:

• Main text
• opth-11-1337.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2076739

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TG: C1996S; rs2076739

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: TG: C1996S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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