Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference19 articles.
1. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium;Amendola;Am. J. Hum. Genet.,2016
2. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States;Au;Genet. Med.,2007
3. Variable phenotypic expression of a MECP2 mutation in a family;Augenstein;J. Neurodev. Disord.,2009
4. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta;Ben Amor;J. Osteoporos.,2011
5. Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly;Bonapace;Am. J. Med. Genet. Part A,2010
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1. Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the <i>MYH8</i> gene;Neuromuscular Diseases;2023-10-30
2. Simultaneous loss of skeletal muscle myosin heavy chain IIx and IIb causes severe skeletal muscle hypoplasia in postnatal mice;The FASEB Journal;2022-12-14
3. A fast Myosin super enhancer dictates muscle fiber phenotype through competitive interactions with Myosin genes;Nature Communications;2022-02-24
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5. Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project;The American Journal of Human Genetics;2019-07
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