João Parente Freixo

3PUBLICATIONS
16CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsMedical virologyPaediatrics not elsewhere classified
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Publications (3)

|May 07, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Mafalda Melo, Mariana Ribeiro, Paulo Filipe Silva

|May 24, 2023
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Mariana Santos, João Massano, Alexandra Manuel Lopes

|Sep 08, 2020
X-linked hypophosphatemic rickets: a new mutation.

Patrícia Maio, Lia Mano, Sara Rocha

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