Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.L302_I306delFs
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MCPH1

NM_024596.5:p.L302_I306delFs

Associated Papers

Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

Tervasmäki A et al.

Breast Cancer Research and Treatment, 2025

The emerging role of MCPH1/BRIT1 in carcinogenesis.

Alsolami M et al.

Frontiers in Oncology, 2023

Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.

Tervasmäki A et al.

International Journal of Cancer, 2019

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.

Mantere T et al.

Scientific Reports, 2017

The DNA damage response molecule MCPH1 in brain development and beyond.

Liu X et al.

Acta Biochimica Et Biophysica Sinica, 2016

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.

Mantere T et al.

Plos Genetics, 2016

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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."