Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.R536Q
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COL11A2

NM_080680.3:p.R536Q

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1

Residual risk for additional recessive diseases in consanguineous couples.

AlAbdi L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."