Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.I604N
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TRPV4

NM_021625.5:p.I604N

Associated Papers

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review.

Liu Y et al.

Medicine, 2025

[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].

Cammarata-Scalisi F et al.

Archivos Argentinos De Pediatria, 2015

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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."