Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.V421A
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COMP

NM_000095.3:p.V421A

Associated Papers

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.

Li S et al.

Orphanet Journal of Rare Diseases, 2024

38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM4_ESM.xlsx › ___1
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