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Journal Articles

OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant

Pariya Yousefi, Bhavi Modi, Ryan Tan, Maryam Vaseghi-Shanjani, Simran Samra, Liam Golding, Stuart Turvey, Catherine Biggs
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.167.
https://doi.org/10.70962/CIS2025abstract.167
Published: 25 April 2025
View articletitled, OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant
Journal Articles

X-MAID Disease Caused by a Novel Synonymous MSN Variant that Disrupts mRNA Splicing

Simran Samra, Pariya Yousefi, Bhavi Modi, Jessica Halparin, Scott Cameron, Catherine Biggs, Stuart Turvey
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.150.
https://doi.org/10.70962/CIS2025abstract.150
Published: 25 April 2025
View articletitled, X-MAID Disease Caused by a Novel Synonymous MSN Variant that Disrupts mRNA Splicing