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A recurrent homozygous missense DPM3 variant leads to muscl..:

Nagy, Sara ; Lau, Tracy ; Alavi, Shahryar...
https://discovery.ucl.ac.uk/id/eprint/10155566/1/A%20recurrent%20homozygous%20missense%20DPM3%20variant.pdf. , 2022

Link: https://discovery.ucl.ac.uk/id/eprint/10155566/1/A%20r..

RT Journal
T1 <Title>A recurrent homozygous missense DPM3 variant leads to muscle and brain disease</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10155566&Exemplar=1&LAN=DE
				
A1 Nagy, Sara
A1 Lau, Tracy
A1 Alavi, Shahryar
A1 Karimiani, Ehsan Ghayoor
A1 Vallian, Jalal
A1 Ng, Bobby G
A1 Asl, Samaneh Noroozi
A1 Akhondian, Javad
A1 Bahreini, Amir
A1 Yaghini, Omid
A1 Uapinyoying, Prech
A1 Bonnemann, Carsten
A1 Freeze, Hudson H
A1 Dissanayake, Vajira HW
A1 Sirisena, Nirmala D
A1 Schmidts, Miriam
A1 Houlden, Henry
A1 Moreno-De-Luca, Andres
A1 Maroofian, Reza
PB WILEY
YR 2022
K1 Science & Technology
K1 Life Sciences & Biomedicine
K1 Genetics & Heredity
K1 congenital disorders of glycosylation (CDG)
K1 DPM3
K1 dystroglycanopathy
K1 muscle dystrophy
K1 muscle-eye-brain (MEB) disease
JF https://discovery.ucl.ac.uk/id/eprint/10155566/1/A%20recurrent%20homozygous%20missense%20DPM3%20variant.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10155566/1/A%20recurrent%20homozygous%20missense%20DPM3%20variant.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10155566/1/A%20recurrent%20homozygous%20missense%20DPM3%20variant.pdf
SF ELIB - SuUB Bremen

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