Varaico: Literature-Extracted Genetic Variants

Gene:NOP53
Variant:p.D31H
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NOP53

NM_015710.5:p.D31H

Associated Papers

ACE-Dependent Alzheimer's Disease: Blood ACE Phenotyping of the Most Prevalent and Damaging ACE Missense Mutation-Y215C (rs3730025).

Buianova AA et al.

Biomedicines, 2026

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

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.

Jiang YJ et al.

Frontiers in Oncology, 2024

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Genetics of Familial Non-Medullary Thyroid Carcinoma (FNMTC).

Diquigiovanni C et al.

Cancers, 2021

Familial non medullary thyroid carcinoma: Beyond the syndromic forms.

Orois A et al.

Endocrinologia, Diabetes Y Nutricion, 2021

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Cameselle-Teijeiro JM et al.

Endocrine Pathology, 2021

NOP53 as A Candidate Modifier Locus for Familial Non-Medullary Thyroid Cancer.

Orois A et al.

Genes, 2019

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › 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."