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Conference Paper: Ranking variant pathogenicity using Exomiser facilitated the identification of the missing second mutation in three recessive cases of congenital myopathy

TitleRanking variant pathogenicity using Exomiser facilitated the identification of the missing second mutation in three recessive cases of congenital myopathy
Authors
Lei, YYang, WChan, HSS
Issue Date2022
Citation
The 20th Asian and Oceanian Myopathy Center (AOMC) Meeting in conjunction with the National Scientific Meeting of Indonesian Neurological Association (PERDOSSI) Jun 9th-12th 2022  How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/323322

 

DC FieldValueLanguage
dc.contributor.authorLei, Y-
dc.contributor.authorYang, W-
dc.contributor.authorChan, HSS-
dc.date.accessioned2022-12-02T14:08:22Z-
dc.date.available2022-12-02T14:08:22Z-
dc.date.issued2022-
dc.identifier.citationThe 20th Asian and Oceanian Myopathy Center (AOMC) Meeting in conjunction with the National Scientific Meeting of Indonesian Neurological Association (PERDOSSI) Jun 9th-12th 2022 -
dc.identifier.urihttp://hdl.handle.net/10722/323322-
dc.languageeng-
dc.relation.ispartofThe 20th Asian and Oceanian Myopathy Center (AOMC) Meeting in conjunction with the National Scientific Meeting of Indonesian Neurological Association (PERDOSSI) Jun 9th-12th 2022 -
dc.titleRanking variant pathogenicity using Exomiser facilitated the identification of the missing second mutation in three recessive cases of congenital myopathy-
dc.typeConference_Paper-
dc.identifier.emailYang, W: yangwl@hku.hk-
dc.identifier.emailChan, HSS: sophehs@hku.hk-
dc.identifier.authorityYang, W=rp00524-
dc.identifier.authorityChan, HSS=rp02210-
dc.identifier.hkuros342868-

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