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P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
by
Booth, Kevin
,
Jangam, Sharayu
,
Man Chun Chui, Martin
,
Treat, Kayla
,
Graziani, Lorenzo
,
Soldano, Alessia
,
White, Kerry
,
Christensen, Celanie
,
Lynnes, Ty
,
Yamamoto, Shinya
,
Kanca, Oguz
,
Tsang, Mandy
,
Lynch, Sally
,
Mullegama, Sureni
,
Baptista, Julia
,
Iancu, Daniela
,
Joss, Shelag
,
CY Mak, Christopher
,
Kwong, Anna
,
Bellen, Hugo
,
Conboy, Erin
,
Sanges, Remo
,
Wangler, Michael F.
,
Hon-Yin Chung, Brian
,
Vetrini, Francesco
Published in
Genetics in Medicine Open
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