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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPV4

Variant:p.G370S

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TRPV4

NM_021625.5:p.G370S

hg38:chr12:109798658 C>T

Associated Papers

Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.

Evans EF et al.

Jbmr Plus, 2025

40808990 (PubMed )

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