Varaico: Literature-Extracted Genetic Variants

Gene:CHD6
Variant:p.H1225Q
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CHD6

NM_032221.5:p.H1225Q

Associated Papers

Genome-wide analysis of somatic noncoding mutation patterns and mitochondrial heteroplasmic shift in type B1 and B2 thymomas.

Fujikura K et al.

The Journal of Pathology, 2026

41344988 (PubMed )
Supplement: PATH-268-135-s001.xlsx › Table_S3

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.

Aslaksen S et al.

Journal of Translational Autoimmunity, 2019

32743495 (PubMed )
Supplement: mmc1.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
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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."