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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 <Title>Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design</Title>

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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