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Anna Sbalchiero

2PUBLICATIONS

18CO-AUTHORS

HaematologyAvionics

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Publications (2)

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|Apr 14, 2025

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-<i>ENG</i> and <i>ACVRL1</i>.

Desiree DeMille, Jamie McDonald, Carmelo Bernabeu

|May 27, 2022

Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.

Anna Sbalchiero, Yasmin Abu Hweij, Tommaso Mazza

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Frequent Collaborators

2 joint publications

Carla Olivieri

1 joint publications

Desiree DeMille

1 joint publications

Jamie McDonald

1 joint publications

Carmelo Bernabeu

1 joint publications

Hilary Racher

1 joint publications

Claudia Cantarini

1 joint publications

Bryony A Thompson

1 joint publications

Luca Jovine

1 joint publications

Claire L Shovlin

1 joint publications

Sophie Dupuis-Girod

Frequent Collaborators

2 joint publications

Carla Olivieri

1 joint publications

Desiree DeMille

1 joint publications

Jamie McDonald

1 joint publications

Carmelo Bernabeu

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