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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COG5

Variant:p.I201_A202del2

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COG5

NM_006348.5:p.I201_A202del2

hg38:chr7:107412563 CTTGCAA>C

Associated Papers

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.

Abualsaud D et al.

American Journal of Medical Genetics. Part A, 2021

32949114 (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."