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Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
by
Snanoudj, Sarah
,
Mordel, Patrick
,
Dupas, Quentin
,
Schanen, Cécile
,
Arion, Alina
,
Gérard, Marion
,
Read, Marie‐Hélène
,
Nait Rabah, Djamel
,
Goux, Didier
,
Chapon, Françoise
,
Jokic, Mickael
,
Allouche, Stéphane
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Molecular genetics & genomic medicine
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