Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R226Splc
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MLH1

NM_000249.4:p.R226Splc

Associated Papers

Mutation-specific Mismatch Repair-deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development.

Hegazy S et al.

The American Journal of Surgical Pathology, 2023

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.

Piñero TA et al.

Familial Cancer, 2020

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Álvarez K et al.

Journal of Clinical Medicine, 2020

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

[Founder mutation in Lynch syndrome].

Cajal AR et al.

Medicina, 2016

MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Dominguez-Valentin M et al.

Frontiers in Oncology, 2016

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

[Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry].

Wielandt AM et al.

Revista Medica De Chile, 2012

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