Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.T323fs
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COL11A2

NM_080680.3:p.T323fs

Associated Papers

Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts.

Zuo Y et al.

Genomics, 2025

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Quaio CRAC et al.

Frontiers in Genetics, 2022

36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_
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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."