Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.D333_E337del0
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TRPV4

NM_021625.5:p.D333_E337del0

Associated Papers

TRPV4-associated skeletal dysplasias.

Nishimura G et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

Camacho N et al.

American Journal of Medical Genetics. Part A, 2010

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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."