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Biallelic variants in the ectonucleotidase ENTPD1 cause a c..:
Calame, Daniel G
;
Herman, Isabella
;
Marshall, Aren E
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10054521/. , 2022
Link:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10054521/
RT Journal T1
Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia
UL https://suche.suub.uni-bremen.de/peid=base-ftpubmed:oai:pubmedcentral.nih.gov:10054521&Exemplar=1&LAN=DE A1 Calame, Daniel G A1 Herman, Isabella A1 Marshall, Aren E A1 Maroofian, Reza A1 Donis, Karina Carvalho A1 Fatih, Jawid M A1 Mitani, Tadahiro A1 Du, Haowei A1 Grochowski, Christopher M A1 Sousa, Sergio A1 Bakhtiari, Somayeh A1 Ito, Yoko A A1 Rocca, Clarissa A1 Hunter, Jill V A1 Sutton, V. Reid A1 Emrick, Lisa T A1 Boycott, Kym M A1 Lossos, Alexander A1 Fellig, Yakov A1 Prus, Eugenia A1 Kalish, Yosef A1 Meiner, Vardiella A1 Suerink, Manon A1 Ruivenkamp, Claudia A1 Muirhead, Kayla A1 Saadi, Nebal W A1 Zaki, Maha S A1 Skidmore, David L A1 Osmond, Matthew A1 Silva, Thiago Oliveira A1 Houlden, Henry A1 Murphy, David A1 Ghayoorarimiani, Ehsan A1 Jamshidi, Yalda A1 Jaddoa, Asaad Ghanim A1 Tajsharghi, Homa A1 Jin, Sheng Chih A1 Coban-Akdemir, Zeynep A1 Travaglini, Lorena A1 Nicita, Francesco A1 Jhangiani, Shalini N A1 Gibbs, Richard A A1 Posey, Jennifer E A1 Kruer, Michael C A1 Kernohan, Kristin D A1 Morales Saute, Jonas A A1 Vanderver, Adeline A1 Pehlivan, Davut A1 Marafi, Dana A1 Lupski, James R YR 2022 K1 Article JF http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10054521/ LK http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10054521/ DO http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10054521/ SF ELIB - SuUB Bremen
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