Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

Daniela Alosi; Marie Luise Bisgaard; Sophie Nowak Hemmingsen; Lotte Nylandsted Krogh; Hanne Birte Mikkelsen; Marie Louise Molgaard Binderup

doi:10.2174/1389202917666160805153221

Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

Daniela Alosi, Marie Luise Bisgaard, Sophie Nowak Hemmingsen, Lotte Nylandsted Krogh, Hanne Birte Mikkelsen, Marie Louise Molgaard Binderup

1 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Current Genomics
Vol/bind	18
Udgave nummer	1
Sider (fra-til)	93-103
Antal sider	11
ISSN	1389-2029
DOI	https://doi.org/10.2174/1389202917666160805153221
Status	Udgivet - 2017

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10.2174/1389202917666160805153221

http://europepmc.org/articles/pmc5321774?pdf=renderLicens: CC BY-NC

Citationsformater

@article{d08629934a1e4603a0c2e066b1c0ff2b,

title = "Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)",

keywords = "Genetic screening, Missense mutation, Renal cell carcinoma, VHL gene, Von Hippel-Lindau disease, Variant of unknown significance",

author = "Daniela Alosi and Bisgaard, {Marie Luise} and Hemmingsen, {Sophie Nowak} and Krogh, {Lotte Nylandsted} and Mikkelsen, {Hanne Birte} and Binderup, {Marie Louise Molgaard}",

year = "2017",

doi = "10.2174/1389202917666160805153221",

language = "English",

volume = "18",

pages = "93--103",

journal = "Current Genomics",

issn = "1389-2029",

publisher = "Bentham Science Publishers",

number = "1",

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TY - JOUR

T1 - Management of Gene Variants of Unknown Significance

T2 - Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

AU - Alosi, Daniela

AU - Bisgaard, Marie Luise

AU - Hemmingsen, Sophie Nowak

AU - Krogh, Lotte Nylandsted

AU - Mikkelsen, Hanne Birte

AU - Binderup, Marie Louise Molgaard

PY - 2017

Y1 - 2017

KW - Genetic screening

KW - Missense mutation

KW - Renal cell carcinoma

KW - VHL gene

KW - Von Hippel-Lindau disease

KW - Variant of unknown significance

U2 - 10.2174/1389202917666160805153221

DO - 10.2174/1389202917666160805153221

M3 - Journal article

C2 - 28503092

SN - 1389-2029

VL - 18

SP - 93

EP - 103

JO - Current Genomics

JF - Current Genomics

IS - 1

ER -

Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

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