Home
About
Overview
Sharing Data
ORCID
Help
History (1)
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
See All Pages
Find People
Find Everything
Login
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
0
)
Return to Top
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
View in:
PubMed
subject areas
Abnormalities, Multiple
Abnormalities, Multiple
Actins
Actins
Adult
Adult
Amino Acid Substitution
Amino Acid Substitution
Arginine
Arginine
Colon
Colon
DNA Mutational Analysis
DNA Mutational Analysis
Female
Female
Genetic Association Studies
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Predisposition to Disease
Genotype
Genotype
Humans
Humans
Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction
Male
Male
Molecular Diagnostic Techniques
Molecular Diagnostic Techniques
Mutation
Mutation
Phenotype
Phenotype
Urinary Bladder
Urinary Bladder
Whole Exome Sequencing
Whole Exome Sequencing
Young Adult
Young Adult
authors with profiles
Yazmin Enchautegui Colon