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Case report: Incomplete penetrance of autosomal dominant my..:
Musa, Nurul Huda
;
Thilakavathy, Karuppiah
;
Mohamad, Nur Afiqah
...
Frontiers in Genetics. 13 (2023) - p. , 2023
Link:
https://doi.org/10.3389/fgene.2022.972007
RT Journal T1
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family
UL https://suche.suub.uni-bremen.de/peid=cr-10.3389_fgene.2022.972007&Exemplar=1&LAN=DE A1 Musa, Nurul Huda A1 Thilakavathy, Karuppiah A1 Mohamad, Nur Afiqah A1 Kennerson, Marina L. A1 Inche Mat, Liyana Najwa A1 Loh, Wei Chao A1 Abdul Rashid, Anna Misyail A1 Baharin, Janudin A1 Ibrahim, Azliza A1 Wan Sulaiman, Wan Aliaa A1 Hoo, Fan Kee A1 Basri, Hamidon A1 Yusof Khan, Abdul Hanif Khan PB Frontiers Media SA YR 2023 SN 1664-8021 JF Frontiers in Genetics VO 13 LK http://dx.doi.org/https://doi.org/10.3389/fgene.2022.972007 DO https://doi.org/10.3389/fgene.2022.972007 SF ELIB - SuUB Bremen
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