Evidence map›Paper›PMID 31737055›Full record

ArticleFrontiers in genetics2019

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel

Geun-Young Park, Dae-Hyun Jang, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo

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

Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.2field-weighted citation impact, top 24% 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

4 citing papers in PubMed, 14 citations in OpenAlex.

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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

5 authors at 2 institutions in 1 country.

Geun-Young ParkDepartment of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Dae-Hyun JangDepartment of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Dong-Woo LeeDepartment of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Ja-Hyun JangGreen Cross Genome, Yongin, South Korea.
Joungsu JooEONE-DIAGNOMICS Genome Center, Incheon, South Korea.
Catholic University of Korea · KRGreen Cross (South Korea) · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused due to a novel frameshift mutation (NM_001034850.2: c.765dupT/p.Gly256TrpfsTer7) in the

Indexed as

consanguineous marriageframeshift mutationhereditary sensory and autonomic neuropathyhomozygousuniparental isodisomy

Identifiers

PMID31737055
PMCPMC6837162
OpenAlexW2981638126

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.