Jon Akutagawa

1PUBLICATIONS
6CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)
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Publications (1)

|Apr 29, 2025
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

Holly C Beale, Victor Tse, Joanna Y Lee

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Frequent Collaborators

1 joint publications

Holly C Beale

1 joint publications

Victor Tse

1 joint publications

Yusuph Mavura

1 joint publications

Brandon Saint-John