Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S486insFs
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MLH1

NM_000249.4:p.S486insFs

Associated Papers

Neuroendocrine neoplasms as a lynch syndrome manifestation: a case report and comprehensive literature review.

Bernal Zárate MP et al.

Frontiers in Endocrinology, 2025

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Aziz S et al.

Familial Cancer, 2023

36418753 (PubMed )
Supplement: 10689_2022_319_MOESM2_ESM.xlsx › Sup._2_Pathogenic_Variants

The genetic alterations of rectal neuroendocrine tumor and indications for therapy and prognosis: a systematic review.

Li K et al.

Endocrine Journal, 2023

Primary Peritoneal Low-grade Serous Carcinoma in a Patient With Lynch Syndrome: A Case Report.

Makiuchi S et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2020

Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series.

Kidambi TD et al.

Familial Cancer, 2017

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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."