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Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients

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dc.contributor.authorGunes, Nilay
dc.contributor.authorYEŞİL, Gözde
dc.contributor.authorGeyik, Filiz
dc.contributor.authorKasap, Busra
dc.contributor.authorCelkan, Tiraje
dc.contributor.authorKebudi, Rejin
dc.contributor.authorTÜYSÜZ, Beyhan
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2021-05-11T20:59:10Z
dc.date.available2021-05-11T20:59:10Z
dc.date.issued2021-04-01T00:00:00Z
dc.description.abstractObjective To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).
dc.identifier.citationGunes N., YEŞİL G., Geyik F., Kasap B., Celkan T., Kebudi R., TÜYSÜZ B., -Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients-, ANNALS OF HUMAN GENETICS, 2021
dc.identifier.doi10.1111/ahg.12422
dc.identifier.pubmed33877690
dc.identifier.urihttp://hdl.handle.net/20.500.12645/28863
dc.identifier.wosWOS:000641423700001
dc.titleNeurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients
dc.typeArticle
dspace.entity.typePublication
local.avesis.id77bc37b9-d27c-4896-962a-fcf40688c458
local.indexed.atPubMed
local.indexed.atWOS
local.publication.isinternational1
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relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70

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