Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G303D
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COL2A1

NM_001844.5:p.G303D

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Sergouniotis PI et al.

Eye (london, England), 2015

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