Varaico: Literature-Extracted Genetic Variants

Gene:PACSIN3
Variant:p.E278K
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PACSIN3

NM_016223.5:p.E278K

Associated Papers

TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.

Toft-Bertelsen TL et al.

Cells, 2021

TRPV4-associated skeletal dysplasias.

Nishimura G et al.

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

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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."