Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

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Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

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http://www.wikidata.org/entity/Q55518665

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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

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

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2018年學術文章

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2018年學術文章

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name

Pathogenicity and Penetrance o ...... toma and Paraganglioma (PPGL).

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Pathogenicity and Penetrance o ...... chromocytoma and Paraganglioma

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type

Item

label

Pathogenicity and Penetrance o ...... toma and Paraganglioma (PPGL).

@en

Pathogenicity and Penetrance o ...... chromocytoma and Paraganglioma

@nl

prefLabel

Pathogenicity and Penetrance o ...... toma and Paraganglioma (PPGL).

@en

Pathogenicity and Penetrance o ...... chromocytoma and Paraganglioma

@nl

P1476

Pathogenicity and Penetrance o ...... toma and Paraganglioma (PPGL).

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P2093

David R Goudie

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Jonathan N Berg

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Kaixin Zhou

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Mike Lonergan

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Paul J Newey

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Pavithran Maniam

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P2860

Genetic Misdiagnoses and the Potential for Health Disparities

European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma

15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5

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

SDHA is a tumor suppressor gene causing paraganglioma.

Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.

Quantifying prion disease penetrance using large population control cohorts

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

P304

806-816

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P31

scholarly article

P356

10.1210/JS.2018-00120

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P433

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P478

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P577

2018-06-18T00:00:00Z

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P698

29978154

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P921

phaeochromocytoma

P932

6030830

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