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Miquel Raspall-Chaure

1PUBLICATIONS

6CO-AUTHORS

Medical biochemistry - lipids

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Publications (1)

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|Aug 20, 2021

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria

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Francesco Saettini

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Lisa Pavinato

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Vincent Michaud

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Maria Iascone

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Heather C Mefford

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Alfredo Brusco

Frequent Collaborators

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Francesco Saettini

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Lisa Pavinato

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Vincent Michaud

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Maria Iascone

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