Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.
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Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaDYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
P2860
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.
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Evaluation of autosomal domina ...... variants may often be benign.
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Evaluation of autosomal domina ...... variants may often be benign.
@en
prefLabel
Evaluation of autosomal domina ...... variants may often be benign.
@en
P2860
P1433
P1476
Evaluation of autosomal domina ...... variants may often be benign.
@en
P2093
Michael B Gorin
Samuel P Strom
P2860
P304
P577
2013-05-06T00:00:00Z