Associated Papers
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808694 (PubMed )
Supplement: media-2.xlsx › Patient_7
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
Maiti B et al.
Human Mutation, 2009
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