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1 Ergebnisse
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eP364: Lessons from pathogenicity classifications for 251 R..:
Johnston, Jennifer
;
Dirksen, Robert
;
Girard, Thierry
...
Genetics in Medicine. 24 (2022) 3 - p. S229-S230 , 2022
Link:
https://doi.org/10.1016/j.gim.2022.01.399
RT Journal T1
eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2022.01.399&Exemplar=1&LAN=DE A1 Johnston, Jennifer A1 Dirksen, Robert A1 Girard, Thierry A1 Gonsalves, Stephen A1 Hopkins, Phil A1 Kraeva, Natalia A1 Ognoon, Mungunsukh A1 Radenbaugh, Bailey A1 Riazi, Sheila A1 Robinson, Rachel A1 Sambuughin, Nyamkhishig A1 Shepherd, Sarah A1 Stowell, Kathryn A1 Weber, James A1 Yoo, Seeley A1 Rosenberg, Henry A1 Biesecker, Leslie PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 3 SP S229 OP S230 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2022.01.399 DO https://doi.org/10.1016/j.gim.2022.01.399 SF ELIB - SuUB Bremen
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