Varaico: Literature-Extracted Genetic Variants

Gene:FOXE1
Variant:p.R73S
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FOXE1

NM_004473.4:p.R73S

Associated Papers

Identification of functional non-coding variants associated with orofacial cleft.

Kumari P et al.

Biorxiv : the Preprint Server for Biology, 2025

Disruption of the foxe1 gene in zebrafish reveals conserved functions in development of the craniofacial skeleton and the thyroid.

Raterman ST et al.

Frontiers in Cell and Developmental Biology, 2023

Genetic disorders of thyroid development, hormone biosynthesis and signalling.

Moran C et al.

Clinical Endocrinology, 2022

Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.

Long W et al.

International Journal of Endocrinology, 2020

32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1

DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

Peters C et al.

European Journal of Endocrinology, 2018

FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

Mendieta-Zerón H et al.

Case Reports in Genetics, 2017

Thyroid transcription factors in development, differentiation and disease.

Fernández LP et al.

Nature Reviews. Endocrinology, 2015

A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.

Carré A et al.

Thyroid : Official Journal of the American Thyroid Association, 2014

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