Article

The<i>NR5A1/SF-1</i>variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development

2023-02-17

Abstract excerpt

Steroidogenic factor 1 (SF-1, NR5A1 ) plays an important role in human sex development. Variants of NR5A1/ SF-1 may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. So far, the broad DSD phenotypic variability associated NR5A1 /SF-1 variants remains a conundrum. The NR5A1 /SF-1 variant c.437G>C/p.Gly146Ala is common in individuals with a DSD and has been suggested to a...

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Literature Corpus work: dd0a47dc-105e-5711-87fe-984fd3ccce84
DOI: 10.1101/2023.02.13.23285760

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