Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.S98N
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NKX2-5

NM_004387.4:p.S98N

Associated Papers

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.

Szczepanek-Parulska E et al.

International Journal of Molecular Sciences, 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

Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.

Ramos HE et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

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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."