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1 Ergebnisse
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Updated variant curation expert panel criteria and pathogen..:
Johnston, Jennifer J
;
Dirksen, Robert T
;
Girard, Thierry
...
Human Molecular Genetics. 31 (2022) 23 - p. 4087-4093 , 2022
Link:
https://doi.org/10.1093/hmg/ddac145
RT Journal T1
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddac145&Exemplar=1&LAN=DE A1 Johnston, Jennifer J A1 Dirksen, Robert T A1 Girard, Thierry A1 Hopkins, Phil M A1 Kraeva, Natalia A1 Ognoon, Mungunsukh A1 Radenbaugh, K Bailey A1 Riazi, Sheila A1 Robinson, Rachel L A1 Saddic, III, Louis A A1 Sambuughin, Nyamkhishig A1 Saxena, Richa A1 Shepherd, Sarah A1 Stowell, Kathryn A1 Weber, James A1 Yoo, Seeley A1 Rosenberg, Henry A1 Biesecker, Leslie G PB Oxford University Press (OUP) YR 2022 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 31 IS 23 SP 4087 OP 4093 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddac145 DO https://doi.org/10.1093/hmg/ddac145 SF ELIB - SuUB Bremen
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