Varaico: Literature-Extracted Genetic Variants

Gene:SRRM2
Variant:p.S346F
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SRRM2

NM_016333.4:p.S346F

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

Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.

Regan-Fendt KE et al.

American Journal of Medical Genetics. Part A, 2023

Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the SRRM2 gene.

Zhang T et al.

Frontiers in Endocrinology, 2023

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

A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer.

Zhao Y et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

An update on familial nonmedullary thyroid cancer.

Ammar SA et al.

Endocrine, 2020

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

Cirello V et al.

Frontiers in Endocrinology, 2020

Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.

Hińcza K et al.

Genes, 2019

Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer.

Son HY et al.

Nature Communications, 2017

28703219 (PubMed )
Supplement: ncomms15966-s2.pdf

HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.

Pinheiro M et al.

Oncotarget, 2017

HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer.

Weeks AL et al.

Bmc Medical Genetics, 2016

Identification of novel hereditary cancer genes by whole exome sequencing.

Sokolenko AP et al.

Cancer Letters, 2015

A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition.

Tomsic J et al.

Scientific Reports, 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."