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A recurrent homozygous missense DPM3 variant leads to muscl..:
Nagy, S
;
Lau, T
;
Alavi, S
...
https://openaccess.sgul.ac.uk/id/eprint/115052/1/Clinical%20Genetics%20-%202022%20-%20Nagy%20-%20A%20recurrent%20homozygous%20missense%20DPM3%20variant%20leads%20to%20muscle%20and%20brain%20disease.pdf. , 2022
Link:
https://openaccess.sgul.ac.uk/id/eprint/115052/
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-ftstgeorgesuniv:oai:openaccess.sgul.ac.uk:115052&Exemplar=1&LAN=DE A1 Nagy, S A1 Lau, T A1 Alavi, S A1 Karimiani, EG A1 Vallian, J A1 Ng, BG A1 Noroozi Asl, S A1 Akhondian, J A1 Bahreini, A A1 Yaghini, O A1 Uapinyoying, P A1 Bonnemann, C A1 Freeze, HH A1 Dissanayake, VHW A1 Sirisena, ND A1 Schmidts, M A1 Houlden, H A1 Moreno-De-Luca, A A1 Maroofian, R PB Wiley YR 2022 JF https://openaccess.sgul.ac.uk/id/eprint/115052/1/Clinical%20Genetics%20-%202022%20-%20Nagy%20-%20A%20recurrent%20homozygous%20missense%20DPM3%20variant%20leads%20to%20muscle%20and%20brain%20disease.pdf LK http://dx.doi.org/https://openaccess.sgul.ac.uk/id/eprint/115052/ DO https://openaccess.sgul.ac.uk/id/eprint/115052/ SF ELIB - SuUB Bremen
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