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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 <Title>List of variants identified in the prioritized genes in TNDF182-6 patient</Title>

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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