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A deep intronic variant in MME causes autosomal recessive C..:
Grosz, Bianca R.
;
Parmar, Jevin M.
;
Ellis, Melina
...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 262-274 , 2024
Link:
https://doi.org/10.1111/jns.12637
RT Journal T1 <Title>A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_jns.12637&Exemplar=1&LAN=DE A1 Grosz, Bianca R. A1 Parmar, Jevin M. A1 Ellis, Melina A1 Bryen, Samantha A1 Simons, Cas A1 Reis, Andre L. M. A1 Stevanovski, Igor A1 Deveson, Ira W. A1 Nicholson, Garth A1 Laing, Nigel A1 Wallis, Mathew A1 Ravenscroft, Gianina A1 Kumar, Kishore R. A1 Vucic, Steve A1 Kennerson, Marina L. PB Wiley YR 2024 SN 1085-9489 SN 1529-8027 JF Journal of the Peripheral Nervous System VO 29 IS 2 SP 262 OP 274 LK http://dx.doi.org/https://doi.org/10.1111/jns.12637 DO https://doi.org/10.1111/jns.12637 SF ELIB - SuUB Bremen
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