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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
by
Falabella, Micol
,
Pizzamiglio, Chiara
,
Tabara, Luis Carlos
,
Munro, Benjamin
,
Abdel-Hamid, Mohamed S
,
Sonmezler, Ece
,
Macken, William L
,
Lu, Shanti
,
Tilokani, Lisa
,
Flannery, Padraig J
,
Patel, Nina
,
Pope, Simon A S
,
Heales, Simon J R
,
Hammadi, Dania B H
,
Alston, Charlotte L
,
Taylor, Robert W
,
Lochmuller, Hanns
,
Woodward, Cathy E
,
Labrum, Robyn
,
Vandrovcova, Jana
,
Houlden, Henry
,
Chronopoulou, Efstathia
,
Pierre, Germaine
,
Maroofian, Reza
,
Hanna, Michael G
,
Taanman, Jan-Willem
,
Hiz, Semra
,
Oktay, Yavuz
,
Zaki, Maha S
,
Horvath, Rita
,
Prudent, Julien
,
Pitceathly, Robert D S
Published in
Brain (London, England : 1878)
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