Article

<i>SERPINA11</i>related novel Serpinopathy- a perinatal lethal disorder

2023-10-03

Abstract excerpt

<h4>Summary</h4> SERPINA11 is a hitherto poorly characterised gene belonging to Clade A of the SERPIN superfamily. The exact functional significance and expression pattern of this gene remains unknown. Here we report a perinatal lethal phenotype associated with biallelic loss of function variants in SERPINA11 , and characterised by gross and histopathological features of extracellular matrix disruption. We found S...

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Literature Corpus work: 451bee6e-0f54-5919-bda4-db100b245b18
DOI: 10.1101/2023.10.03.23296272

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