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Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia
by
Calame, Daniel G.
,
Herman, Isabella
,
Marshall, Aren E.
,
Maroofian, Reza
,
Donis, Karina Carvalho
,
Fatih, Jawid M.
,
Mitani, Tadahiro
,
Du, Haowei
,
Grochowski, Christopher M.
,
Sousa, Sergio
,
Bakhtiari, Somayeh
,
Ito, Yoko A.
,
Rocca, Clarissa
,
Hunter, Jill V.
,
Sutton, V. Reid
,
Emrick, Lisa T.
,
Boycott, Kym M.
,
Lossos, Alexander
,
Fellig, Yakov
,
Prus, Eugenia
,
Kalish, Yosef
,
Meiner, Vardiella
,
Suerink, Manon
,
Ruivenkamp, Claudia
,
Muirhead, Kayla
,
Saadi, Nebal W.
,
Zaki, Maha S.
,
Skidmore, David L.
,
Osmond, Matthew
,
Silva, Thiago Oliveira
,
Houlden, Henry
,
Murphy, David
,
Ghayoorarimiani, Ehsan
,
Jamshidi, Yalda
,
Jaddoa, Asaad Ghanim
,
Tajsharghi, Homa
,
Jin, Sheng Chih
,
Coban-Akdemir, Zeynep
,
Travaglini, Lorena
,
Nicita, Francesco
,
Jhangiani, Shalini N.
,
Gibbs, Richard A.
,
Posey, Jennifer E.
,
Kruer, Michael C.
,
Kernohan, Kristin D.
,
Morales Saute, Jonas A.
,
Vanderver, Adeline
,
Pehlivan, Davut
,
Marafi, Dana
,
Lupski, James R.
Published in
Annals of neurology
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