Varaico: Literature-Extracted Genetic Variants

Gene:CALHM2
Variant:p.Q229*
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CALHM2

NM_015916.5:p.Q229*

Associated Papers

A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.

Bianchi A et al.

Nar Genomics and Bioinformatics, 2024

38633426 (PubMed )
Supplement: lqae033_supplemental_files.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.

Henarejos-Castillo I et al.

Journal of Personalized Medicine, 2021

34199109 (PubMed )
Supplement: jpm-11-00609-s001.zip › jpm-1233323-supplementary.pdf

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S4
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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."