(PDF) ABCA4-associated Disease as a Model for Missing

ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants

Genetics in Medicine - United States

doi 10.1038/s41436-018-0420-y

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Date

January 23, 2019

Authors

Caroline Van Cauwenbergh

Thomy J. L. de Ravel de l’Argentière

Publisher

Springer Science and Business Media LLC

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Amanote Research

ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants

Genetics in Medicine - United States

doi 10.1038/s41436-018-0420-y

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

FunSeq2: A Framework for Prioritizing Noncoding Regulatory Variants in Cancer

Segmental and Total Uniparental Isodisomy (UPiD) as a Disease Mechanism in Autosomal Recessive Lysosomal Disorders: Evidence From SNP Arrays

Lessons From Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

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Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

Autosomal Recessive Hyperimmunoglobulin E Syndrome: A Distinct Disease Entity

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in theTCIRG1Gene

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