KEGG   VARIANT: 51690v1
Entry
51690v1                      Variant                               
Name
LSM7 mutation
Type
Loss of function
Gene
LSM7  LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated [KO:K12626]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607287
Network
nt06547  Spliceosome
Disease
H02983  Leukodystrophy and cerebellar atrophy
Reference
PMID:35047835
  Authors
Derksen A, Shih HY, Forget D, Darbelli L, Tran LT, Poitras C, Guerrero K, Tharun S, Alkuraya FS, Kurdi WI, Nguyen CE, Laberge AM, Si Y, Gauthier MS, Bonkowsky JL, Coulombe B, Bernard G
  Title
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.
  Journal
HGG Adv 2:100034 (2021)
DOI:10.1016/j.xhgg.2021.100034
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