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Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:
Tolonen, Jussi Pekka
;
Parolin Schnekenberg, Ricardo
;
McGowan, Simon
...
https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdf. , 2023
Link:
https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detai..
RT Journal T1
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10181855&Exemplar=1&LAN=DE A1 Tolonen, Jussi Pekka A1 Parolin Schnekenberg, Ricardo A1 McGowan, Simon A1 Sims, David A1 McEntagart, Meriel A1 Elmslie, Frances A1 Shears, Debbie A1 Stewart, Helen A1 Tofaris, George K A1 Dabir, Tabib A1 Morrison, Patrick J A1 Johnson, Diana A1 Hadjivassiliou, Marios A1 Ellard, Sian A1 Shaw-Smith, Charles A1 Znaczko, Anna A1 Dixit, Abhijit A1 Suri, Mohnish A1 Sarkar, Ajoy A1 Harrison, Rachel E A1 Jones, Gabriela A1 Houlden, Henry A1 Ceravolo, Giorgia A1 Jarvis, Joanna A1 Williams, Jonathan A1 Shanks, Morag E A1 Clouston, Penny A1 Rankin, Julia A1 Blumkin, Lubov A1 Lerman-Sagie, Tally A1 Ponger, Penina A1 Raskin, Salmo A1 Granath, Katariina A1 Uusimaa, Johanna A1 Conti, Hector A1 McCann, Emma A1 Joss, Shelagh A1 Blakes, Alexander JM A1 Metcalfe, Kay A1 Kingston, Helen A1 Bertoli, Marta A1 Kneen, Rachel A1 Lynch, Sally Ann A1 Martínez Albaladejo, Inmaculada A1 Moore, Austen Peter A1 Jones, Wendy D A1 Genomics England Research Consortium A1 Becker, Esther BE A1 Németh, Andrea H PB Wiley YR 2023 K1 Gillespie syndrome K1 IP3R1 K1 ITPR1 K1 cerebellum K1 next-generation sequencing K1 spinocerebellar ataxia type 29 JF https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdf DO https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdf SF ELIB - SuUB Bremen
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