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Whole exome sequencing and transcript analysis of a PTEN splice-site variant in a child with PTEN hamartoma tumor syndrome: a case report

Authors: Riho Shimada, Hiroaki Hanafusa, Yoshitaka Asagai et al.

Publication: Brain and Development Case Reports

Published: Dec 1, 2026

Source: Crossref

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Whole exome sequencing and transcript analysis of a PTEN splice-site variant in a child with PTEN hamartoma tumor syndrome: a case report

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