Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10363735" target="_blank" >RIV/00216208:11110/17:10363735 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/17:10363735
Result on the web
<a href="http://dx.doi.org/10.1007/s11033-017-4121-4" target="_blank" >http://dx.doi.org/10.1007/s11033-017-4121-4</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s11033-017-4121-4" target="_blank" >10.1007/s11033-017-4121-4</a>

Result language
angličtina
Original language name
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts
Original language description
Our study highlights that patients with genetically heterogenous conditios may exhibit rare variants in more that one disease-asssociated gene, warranting caution with data interpretation,and supporting parallel screening of all genes known to harbour pathogenic mutations for a given phenotype.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10600 - Biological sciences

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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