KEGG VARIANT: 7148v2

VARIANT: 7148v2

Entry

7148v2                      Variant

Name

TNXB gain-of-function mutation

Type

Gain of function

Gene

TNXB tenascin XB [KO:K06252]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 600985

Network

nt06548 Integrin signaling

Disease

H01037

Vesicoureteral reflux

Reference

PMID:23620400

Authors

Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP

Title

TNXB mutations can cause vesicoureteral reflux.

Journal

J Am Soc Nephrol 24:1313-22 (2013)
DOI:10.1681/ASN.2012121148

LinkDB

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