Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.R1016K
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COL2A1

NM_001844.5:p.R1016K

Associated Papers

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.

Slavec L et al.

International Journal of Molecular Sciences, 2023

36901693 (PubMed )
Supplement: ijms-24-04262-s001.zip › ijms-2089997-supplementary.pdf

Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.

Steinle J et al.

American Journal of Medical Genetics. Part A, 2022

Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.

Veatch OJ et al.

Bmc Medical Genomics, 2022

35918752 (PubMed )
Supplement: 12920_2022_1321_MOESM3_ESM.xlsx › Supplemental_Table_3
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