Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D420A
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COMP

NM_000095.3:p.D420A

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Guo BB et al.

Biomed Research International, 2021

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.

Briggs MD et al.

Human Mutation, 2002

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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."