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List of variants identified in the prioritized genes in TND..:
Rahma Mkaouar (11381295)
;
Zied Riahi (578133)
;
Cherine Charfeddine (11529786)
...
https://figshare.com/articles/dataset/List_of_variants_identified_in_the_prioritized_genes_in_TNDF182-6_patient_/16753458. , 2021
Link:
https://doi.org/10.1371/journal.pone.0258202.s003
RT Journal T1
List of variants identified in the prioritized genes in TNDF182-6 patient
UL https://suche.suub.uni-bremen.de/peid=base-ftsmithonian:oai:figshare.com:article_16753458&Exemplar=1&LAN=DE A1 Rahma Mkaouar (11381295) A1 Zied Riahi (578133) A1 Cherine Charfeddine (11529786) A1 Imen Chelly (11529789) A1 Hela Boudabbous (11529792) A1 Hamza Dallali (5100560) A1 Crystel Bonnet (578134) A1 Meriem Hechmi (3608651) A1 Soumeya Bekri (1696447) A1 Nadia Zitouna (11529795) A1 Lotfi Zekri (11529798) A1 Amel Tounsi (328416) A1 Rym Kefi (578140) A1 Jihene Marrakchi (11529801) A1 Olfa Messaoud (5350562) A1 Ichraf Kraoua (11529804) A1 Sonia Maalej (11529807) A1 Ilhem Turki Ben Youssef (11529810) A1 Ahlem Ben Hmid (11529813) A1 Fabrice Giraudet (252210) A1 Sami Bouchoucha (11529816) A1 Neji Tebib (11322056) A1 Ghazi Besbes (578145) A1 Christine Petit (274552) A1 Ridha Mrad (5350559) A1 Sonia Abdelhak (578146) A1 Mediha Trabelsi (11529819) YR 2021 K1 Medicine K1 Genetics K1 Immunology K1 Hematology K1 Virology K1 Biological Sciences not elsewhere classified K1 Chemical Sciences not elsewhere classified K1 two tunisian families K1 tunisian consanguineous families K1 severe phenotype observed K1 prevent disease progression K1 premature termination codon K1 p .( ser802glnfster129 K1 p .( arg229trp K1 includes mental retardation K1 enzymatic activity assay K1 div >< p K1 accessing adequate care K1 exome analysis allowed K1 es analysis led K1 moderate clinical sub K1 genes potentially associated K1 es analysis K1 variable expressivity K1 slc19a3 </ K1 six patients K1 second one K1 second family K1 sanger sequencing K1 recurrent infections K1 potential involvement K1 nmd system K1 mutational hotspots K1 mutation induces K1 motor dysfunctions K1 missense variant K1 mannosidase encoded K1 man2b1 maturation K1 man2b1 </ K1 index case K1 hearing loss K1 ghr </ K1 genetic study K1 genetic investigation K1 first family K1 familial variability K1 dysmorphic features K1 deprives patients K1 cognitive impairment K1 cognitive decline JF https://figshare.com/articles/dataset/List_of_variants_identified_in_the_prioritized_genes_in_TNDF182-6_patient_/16753458 LK http://dx.doi.org/https://doi.org/10.1371/journal.pone.0258202.s003 DO https://doi.org/10.1371/journal.pone.0258202.s003 SF ELIB - SuUB Bremen
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