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Recurrent missense variant identified in two unrelated fami..:
Lo, Emma
;
Blair, Justin
;
Yamamoto, Nobuko
...
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024
Link:
https://doi.org/10.1002/ajmg.a.63530
RT Journal T1 <Title>Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63530&Exemplar=1&LAN=DE A1 Lo, Emma A1 Blair, Justin A1 Yamamoto, Nobuko A1 Diaz‐Miranda, Maria Alejandra A1 Bedoukian, Emma A1 Gray, Christopher A1 Lawrence, Audrey A1 Dedhia, Kavita A1 Elden, Lisa M. A1 Germiller, John A. A1 Kazahaya, Ken A1 Sobol, Steven E. A1 Luo, Minjie A1 Krantz, Ian D. A1 Hartman, Tiffiney R. PB Wiley YR 2024 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 194 IS 5 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63530 DO https://doi.org/10.1002/ajmg.a.63530 SF ELIB - SuUB Bremen
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