Two siblings with PEX11B-related peroxisome biogenesis disorder-Reference-Cited by-同舟云学术

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Two siblings with PEX11B-related peroxisome biogenesis disorder

Published:2024-04 Issue: Volume:68 Page:104928
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Khoddam Somayeh,Kamal Neda,Shiri Amirmasoud,Jafari Khamirani Hossein,Manoochehri Jamal,Dianatpour Mehdi,Tabei Seyed Mohammad Bagher,Dastgheib Seyed Alireza

Funder

Shiraz University of Medical Sciences

Publisher

Elsevier BV

Reference15 articles.

1. UniProt: the universal protein knowledgebase in 2021;Bateman;Nucleic Acids Res.,2021

2. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder;Ebberink;Hum. Mutat.,2011

3. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene;Ebberink;J. Med. Genet.,2012

4. Highly accurate protein structure prediction with AlphaFold;Jumper;Nature,2021

5. Fast and accurate long-read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2010

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