Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

AM Oza, MT DiStefano, SE Hemphill… - Human …, 2018 - Wiley Online Library
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …
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[HTML][HTML] Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

AM Oza, MT DiStefano, SE Hemphill… - Human …, 2018 - ncbi.nlm.nih.gov
Due to the high genetic heterogeneity of hearing loss, current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

AM Oza, MT DiStefano, SE Hemphill, BJ Cushman… - Human …, 2018 - iro.uiowa.edu
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

ClinGen Hearing Loss Clinical Domain … - Human …, 2018 - pure.johnshopkins.edu
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …
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[PDF][PDF] Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

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Sensorineural hearing loss (SNHL) is the most common congenital sensory deficit, with an
estimated prevalence of 2-3 cases per 1000 individuals (Morton & Nance, 2006) …

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

AM Oza, MT DiStefano, SE Hemphill… - Human …, 2018 - pubmed.ncbi.nlm.nih.gov
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

AM Oza, MT DiStefano, SE Hemphill, BJ Cushman… - Human …, 2018 - europepmc.org
Due to the high genetic heterogeneity of hearing loss, current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

[引用][C] Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

AM Oza, MT DiStefano, SE Hemphill, BJ Cushman… - Human Mutation, 2018 - cir.nii.ac.jp
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
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[引用][C] Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

A Oza, MT DiStefano, SE Hemphill, BJ Cushman… - 2018 - repository.ubn.ru.nl
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
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Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

AM Oza, MT DiStefano, SE Hemphill, BJ Cushman… - bioRxiv, 2018 - biorxiv.org
Due to the high genetic heterogeneity of hearing loss, current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …