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Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability

Document Type

Article

Author

Ait-El-Mkadem Saadi, S.; Morales Jaurrieta, A.; Fragaki, K.; Chaussenot, A.; Bannwarth, S.; Paquis-Flucklinger, V.; Rouzier, C.; Kaphan, E.; Maues De Paula, A.

Source

In: European Journal of Medical Genetics. (European Journal of Medical Genetics, December 2022, 65(12))

Subject

Language

English

ISSN

18780849
17697212

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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