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1 Ergebnisse
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P272: Novel biallelic missense variants in C2orf69 cause co..:
Oh, Youjin
;
Yoon, Grace
;
Maier, Michael
...
Genetics in Medicine Open. 2 (2024) - p. 101168 , 2024
Link:
https://doi.org/10.1016/j.gimo.2024.101168
RT Journal T1
P272: Novel biallelic missense variants in C2orf69 cause combined oxidative phosphorylation deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2024.101168&Exemplar=1&LAN=DE A1 Oh, Youjin A1 Yoon, Grace A1 Maier, Michael A1 Reversade, Bruno A1 Cameron, Jessie A1 Blaser, Susan A1 Hawkins, Cynthia PB Elsevier BV YR 2024 SN 2949-7744 JF Genetics in Medicine Open VO 2 SP 101168 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2024.101168 DO https://doi.org/10.1016/j.gimo.2024.101168 SF ELIB - SuUB Bremen
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