Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N Da Silva, A Salvi… - Human …, 2020 - Wiley Online Library
Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. To explore an often‐overlooked splicing effect of missense …
被引用次数：12 相关文章
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[PDF][PDF] Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N Da Silva, A Salvi, N Lévy… - scholar.archive.org
Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. In order to explore an often overlooked splicing effect of …

[引用][C] Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N da Silva, A Salvi, N Levy… - Human Mutation, 2020 - hal.science
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by
minigene functional assay - Archive ouverte HAL Accéder directement au contenu …

[引用][C] Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N da Silva, A Salvi, N Levy… - Human …, 2020 - inria.hal.science
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by
minigene functional assay - Inria - Institut national de recherche en sciences et technologies du …
[PDF] hal.science

[PDF][PDF] Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N da Silva, A Salvi, N Levy… - Human …, 2020 - amu.hal.science
Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. In order to explore an often overlooked splicing effect of …

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.

E Dionnet, A Defour, N Da Silva, A Salvi, N Lévy… - Human …, 2020 - europepmc.org
Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. To explore an often-overlooked splicing effect of missense …

[引用][C] Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N Da Silva, A Salvi, N Lévy… - Human Mutation, 2020 - cir.nii.ac.jp
Splicing impact of deep exonic missense variants in <i>CAPN3</i> explored systematically by
minigene functional assay | CiNii Research CiNii 国立情報学研究所 学術情報ナビゲータ[サイニィ] …

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N Da Silva, A Salvi, N Lévy… - bioRxiv, 2020 - biorxiv.org
Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. In order to explore an often overlooked splicing effect of …

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N Da Silva, A Salvi… - Human …, 2020 - pubmed.ncbi.nlm.nih.gov
Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. To explore an often-overlooked splicing effect of missense …

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

E Dionnet, A Defour, N Da Silva, A Salvi, N Lévy… - 2020 - europepmc.org
Improving the accuracy of variant interpretation during diagnostic sequencing is a major
goal for genomic medicine. In order to explore an often overlooked splicing effect of …