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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL11A2

Variant:p.G694_K695Fs

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COL11A2

NM_080680.3:p.G694_K695Fs

hg38:chr6:33176751 CTTCC>T

Associated Papers

Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.

Skrypnyk C et al.

Bmc Pregnancy and Childbirth, 2024

39425040 (PubMed )

Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.

Skrypnyk C et al.

Frontiers in Genetics, 2024

38859940 (PubMed )

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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."