KEGG   VARIANT: 7148v1
Entry
7148v1                      Variant                                
Name
TNXB mutation
Type
Loss 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
H00802  Ehlers-Danlos syndrome
Reference
PMID:35128805
  Authors
Santoreneos R, Vakulin C, Ellul M, Rawlings L, Hardy T, Poplawski N
  Title
Recurrent pneumothorax in a case of tenascin-X deficient Ehlers-Danlos syndrome: Broadening the phenotypic spectrum.
  Journal
Am J Med Genet A 188:1583-1588 (2022)
DOI:10.1002/ajmg.a.62674
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