Varaico: Literature-Extracted Genetic Variants

Gene:FOXE1
Variant:p.A248G
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FOXE1

NM_004473.4:p.A248G

Associated Papers

Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series.

Mohammadi Zaniani Z et al.

Laboratory Medicine, 2024

Identification of Germline FOXE1 and Somatic MAPK Pathway Gene Alterations in Patients with Malignant Struma Ovarii, Cleft Palate and Thyroid Cancer.

Pires C et al.

International Journal of Molecular Sciences, 2024

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Nazarenko MS et al.

International Journal of Molecular Sciences, 2022

36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category

Genetic susceptibility to hereditary non-medullary thyroid cancer.

Kamani T et al.

Hereditary Cancer in Clinical Practice, 2022

Familial non medullary thyroid carcinoma: Beyond the syndromic forms.

Orois A et al.

Endocrinologia, Diabetes Y Nutricion, 2021

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Thiffault I et al.

Cold Spring Harbor Molecular Case Studies, 2020

32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM

Clinical and Genetic Features of a Large Monocentric Series of Familial Non-Medullary Thyroid Cancers.

Cirello V et al.

Frontiers in Endocrinology, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

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

HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer.

Weeks AL et al.

Bmc Medical Genetics, 2016

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Strom SP et al.

Plos One, 2016

26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants

Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).

Pereira JS et al.

Endocrine, 2015

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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."