Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi, Haloom
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. [electronic resource] - American journal of human genetics 07 2019 - 151-165 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2019.05.016 doi
Algorithms
Cerebellar Ataxia--etiology
Cohort Studies
Computational Biology--methods
Family
Female
Genomics
Humans
Introns
Male
Microsatellite Repeats
Middle Aged
Polyneuropathies--etiology
Replication Protein C--genetics
Sensation Disorders--etiology
Syndrome
Vestibular Diseases--etiology
Whole Genome Sequencing
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. [electronic resource] - American journal of human genetics 07 2019 - 151-165 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2019.05.016 doi
Algorithms
Cerebellar Ataxia--etiology
Cohort Studies
Computational Biology--methods
Family
Female
Genomics
Humans
Introns
Male
Microsatellite Repeats
Middle Aged
Polyneuropathies--etiology
Replication Protein C--genetics
Sensation Disorders--etiology
Syndrome
Vestibular Diseases--etiology
Whole Genome Sequencing