Article

RETRACTED: Disrupting the Genetic Code: The Impact of a novel homozygous/heterozygous Splicing Mutation on COL4A3 with mild phenotype in an autosomal recessive Alport Syndrome’s family

2024-01-29

Abstract excerpt

<title>Abstract</title> <p>The authors have requested that this preprint be removed from Research Square.</p>

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ccfd1960-998e-58d0-921d-80fbc6c248f9
DOI: 10.21203/rs.3.rs-3772179/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

RETRACTED: Disrupting the Genetic Code: The Impact of a novel homozygous/heterozygous Splicing Mutation on COL4A3 with mild phenotype in an autosomal recessive Alport Syndrome’s familyDOI 10.21203/rs.3.rs-3772179/v2Read

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variantSemantic proximity Read

A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report.Semantic proximity Read

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature ReviewSemantic proximity Read

Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, BrazilSemantic proximity Read

Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.Semantic proximity Read

[Analysis of genetic variant in a child with autosomal recessive Alport syndrome].Semantic proximity Read

Novel COL4A5 mutation in preimplantation genetic diagnosis of a patient with Alport syndromSemantic proximity Read

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.Semantic proximity Read

Autosomal recessive Alport syndrome caused by a novel COL4A4 compound heterozygous mutation: A case report.Semantic proximity Read

Functional Validation of Spliceogenic COL4A3 and COL4A4 Variants by Minigene Assays Refines Molecular Diagnosis of Alport SyndromeSemantic proximity Read

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.Semantic proximity Read

Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport SyndromeSemantic proximity Read