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1 Ergebnisse
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A novel truncating variant p.(Arg297*) in the GRM1 gene cau..:
Cabet, Sara
;
Putoux, Audrey
;
Carneiro, Maryline
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.103726. , 2019
Link:
https://hal.science/hal-03487847
RT Journal T1
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
UL https://suche.suub.uni-bremen.de/peid=base-fthospicivilyon:oai:HAL:hal-03487847v1&Exemplar=1&LAN=DE A1 Cabet, Sara A1 Putoux, Audrey A1 Carneiro, Maryline A1 Labalme, Audrey A1 Sanlaville, Damien A1 Guibaud, Laurent A1 Lesca, Gaetan PB HAL CCSD; Elsevier YR 2019 K1 Cerebellar ataxia K1 GRM1 K1 Metabotropic glutamate receptor type 1 K1 Spinocerebellar ataxia autosomal recessive K1 13 K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.103726 LK http://dx.doi.org/https://hal.science/hal-03487847 DO https://hal.science/hal-03487847 SF ELIB - SuUB Bremen
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