Article

Functional identification of protocadherin alpha 9 (PCDHA9) as a candidate causative gene for amyotrophic lateral sclerosis

2023-06-22

Abstract excerpt

<title>Abstract</title> <p>Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease. To identify additional genetic contributors to ALS, we analyzed exome sequences in a large cohort of Chinese ALS patients. We found a homozygous variant (p.L700P) in<italic> PCDHA9</italic> in three unrelated patients but not in publicly available genomic databases. We generated <italic>Pcdhα9</italic> mutan...

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Literature Corpus work: 317c6295-1da4-5341-bc07-62537c90900c
DOI: 10.21203/rs.3.rs-2952148/v1

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