Open AccessRecurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement
Author(s) -
Parneet Kaur,
Rajagopal Kadavigere,
Katta M. Girisha,
Anju Shukla
Publication year - 2020
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awaa046
Subject(s) - allele , genetics , rna splicing , encephalopathy , medicine , biology , endocrinology , gene , rna
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