Evidence map›Paper›PMID 34214448›Full record

ArticleAmerican journal of human genetics2021

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Lee, Shan Zhang, Beril Talim, Abigail Y T Loh, Crystal Y Chia and 62 more

Abstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

72 authors.

Hui Hui Wong
Sze Hwee Seet
Michael Maier
Ayse Gurel
Ricardo Moreno Traspas
Cheryl Lee
Shan Zhang
Beril Talim
Abigail Y T Loh
Crystal Y Chia
Tze Shin Teoh
Danielle Sng
Jarred Rensvold
Sule Unal
Evgenia Shishkova
Ece Cepni
Fatima M Nathan
Fernanda L Sirota
Chao Liang
Nese Yarali
Pelin O Simsek-Kiper
Tadahiro Mitani
Serdar Ceylaner
Ozlem Arman-Bilir
Hamdi Mbarek
Fatma Gumruk
Stephanie Efthymiou
Deniz Uğurlu Çïmen
Danai Georgiadou
Kortessa Sotiropoulou
Henry Houlden
Franziska Paul
Davut Pehlivan
Candice Lainé
Guoliang Chai
Nur Ain Ali
Siew Chin Choo
Soh Sok Keng
Bertrand Boisson
Elanur Yılmaz
Shifeng Xue
Joshua J Coon
Thanh Thao Nguyen Ly
Naser Gilani
Dana Hasbini
Hulya Kayserili
Maha S Zaki
Robert J Isfort
Natalia Ordonez
Kornelia Tripolszki
Peter Bauer
Nima Rezaei
Simin Seyedpour
Ghamar Taj Khotaei
Charles C Bascom
Reza Maroofian
Myriam Chaabouni
Afaf Alsubhi
Wafaa Eyaid
Sedat Işıkay
Joseph G Gleeson
James R Lupski
Jean-Laurent Casanova
David J Pagliarini
Nurten A Akarsu
Sebastian Maurer-Stroh
Arda Cetinkaya
Aida Bertoli-Avella
Ajay S Mathuru
Lena Ho
Frederic A Bard
Bruno Reversade

Funding

Systems-to-structure approaches for defining mitochondrial protein functionR35GM131795 · NIGMS · WASHINGTON UNIVERSITY · PI David J Pagliarini · 2019 to 2026
$4.8M
NIGMS NIH HHS R35 GM131795
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID34214448
PMCPMC8322923

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.