Fatal systemic disorder caused by biallelic variants in FARSA.

Soo Yeon KimSaebom KoHyunook KangMan Jin KimJangsup MoonByung Chan LimKi Joong KimMurim ChoiHee-Jung ChoiJong-Hee Chae

Published in: Orphanet journal of rare diseases (2022)

Our data demonstrated the pathogenicity of biallelic variants in FARSA and suggested the implication of hypomorphic variants in severe phenotypes.

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