Evidence map›Paper›PMID 35391798›Full record

ArticleFrontiers in genetics2022

CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.

Yan Ma, Xun Wang, Nadav Shoshany, Xiaodong Jiao, Adrian Lee, Gregory Ku, Emma L Baple, James Fasham, Raheela Nadeem, Muhammad Asif Naeem and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 54% of its field
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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 9 institutions in 5 countries.

Yan MaOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
Xun WangOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
Nadav ShoshanyOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
Xiaodong JiaoOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
Adrian LeeOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
Gregory KuDiabetes Center, University of California, San Francisco, San Francisco, CA, United States.
Emma L BapleResearch, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
James FashamResearch, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
Raheela NadeemNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Muhammad Asif NaeemNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Sheikh RiazuddinNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
S Amer RiazuddinThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Andrew H CrosbyResearch, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
J Fielding HejtmancikOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, United States.
National Eye Institute · USRoyal Devon & Exeter NHS Foundation Trust · GBUniversity of the Punjab · PKAssaf Harofeh Medical Center · ILCentre of Excellence in Molecular Biology · PKJohns Hopkins Medicine · USRoyal Devon and Exeter Hospital · GBSun Yat-sen University · CNUniversity of California, San Francisco · US

Funding

Inherited Ocular DiseasesZIAEY000272 · NEI · NATIONAL EYE INSTITUTE · PI HEJTMANCIK, JAMES F. · 2009 to 2025
$27.0M
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

CLCC1founder mutationhaplotype analysismutation age estimatePakistanretinitis pigmenstosa

Identifiers

PMID35391798
PMCPMC8980549
OpenAlexW4220729617

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.