Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.R271P
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SOX9

NM_000346.4:p.R271P

Associated Papers

Roles for TRPV4 in disease: A discussion of possible mechanisms.

Hernández-Vega AM et al.

Cell Calcium, 2024

Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.

Song Z et al.

Cell Death & Disease, 2021

33980813 (PubMed )
Supplement: 41419_2021_3754_MOESM2_ESM.xlsx › Table_S3

The puzzle of TRPV4 channelopathies.

Nilius B et al.

Embo Reports, 2013

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.

Kang SS et al.

Experimental & Molecular Medicine, 2012

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."