Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G1176S
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COL2A1

NM_001844.5:p.G1176S

Associated Papers

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson GC et al.

Human Mutation, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Molecular genetics of the COL2A1-related disorders.

Deng H et al.

Mutation Research. Reviews in Mutation Research, 0

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