التفاصيل البيبلوغرافية
| العنوان: |
Additional file 2 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum |
| المؤلفون: |
Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497) |
| سنة النشر: |
2021 |
| المجموعة: |
Smithsonian Institution: Digital Repository |
| مصطلحات موضوعية: |
Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone |
| الوصف: |
Additional file 2: Fig S1. Examples of sequences of disease-causing variant c.694T>G/ p.(Phe232Val) at individual basis. |
| نوع الوثيقة: |
still image |
| اللغة: |
unknown |
| العلاقة: |
https://figshare.com/articles/figure/Additional_file_2_of_EIF3F-related_neurodevelopmental_disorder_refining_the_phenotypic_and_expanding_the_molecular_spectrum/14247623Test |
| DOI: |
10.6084/m9.figshare.14247623.v1 |
| الإتاحة: |
https://doi.org/10.6084/m9.figshare.14247623.v1Test |
| حقوق: |
CC BY + CC0 |
| رقم الانضمام: |
edsbas.D272D6AD |
| قاعدة البيانات: |
BASE |
