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Variant profile

p.Arg1343His

p.Arg1343His · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
5Associated gene records
1Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
DCCHGNC:270111
RAD51HGNC:981711
NTN1HGNC:802911
ARHGEF7HGNC:1560711
DNAL4HGNC:295511

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
neurodevelopmental disorderHP:001275911

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 8011

Supporting publications

1 records
  1. 2024Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.Movement disorders : official journal of the Movement Disorder Society1 mentions