Article

Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset

2022-03-30

Abstract excerpt

Neurofilament heavy (NEFH) is one of the critical proteins required for the formation of the neuronal cytoskeleton and polymorphisms in NEFH are reported as a rare cause of sporadic ALS (sALS). In the current study, a candidate tetranucleotide (TTTA) repeat variant in NEFH was selected using an in-silico SSV evaluation algorithm and investigated in two cohorts of North American sALS patients, both separately and c...

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Literature Corpus work: 26333118-390b-5e6a-b9d6-5af888ef2679
DOI: 10.21203/rs.3.rs-1456790/v1

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