Exploiting ion channel structure to assess rare variant pathogenicity.

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Exploiting ion channel structure to assess rare variant pathogenicity.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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Exploiting ion channel structure to assess rare variant pathogenicity.

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Exploiting ion channel structure to assess rare variant pathogenicity.

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Exploiting ion channel structure to assess rare variant pathogenicity.

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Exploiting ion channel structure to assess rare variant pathogenicity.

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Exploiting ion channel structure to assess rare variant pathogenicity.

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Exploiting ion channel structure to assess rare variant pathogenicity.

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P1476

Exploiting ion channel structure to assess rare variant pathogenicity.

@en

P2093

Dan M Roden

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M Benjamin Shoemaker

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Prince Kannankeril

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Tao Yang

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P2860

XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

Analysis of protein-coding genetic variation in 60,706 humans

The structural mechanism of KCNH-channel regulation by the eag domain.

Molecular pathogenesis of long QT syndrome type 2

Exome-Scale Discovery of Hotspot Mutation Regions in Human Cancer Using 3D Protein Structure.

MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.

Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

P31

scholarly article

P356

10.1016/J.HRTHM.2018.01.021

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P50

Brett M Kroncke

P577

2018-01-09T00:00:00Z

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P698

29330128

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P932

5984725

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