Evidence map›Paper›PMID 42657432›Full record

ArticleFrontiers in genetics2026

Rare missense variants in

Ana Luiza Meneguci Moreira Franco, Deborah Antunes, Ana Carolina Proença da Fonseca, Ana Clara Rodrigues Moreira Gomes, Ana Carolina Ramos Guimarães, Ieda Maria Orioli, Flavia Martinez de Carvalho

Abstract read
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In one paragraph

Article in Frontiers in genetics, 2026. 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

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

7 authors.

Ana Luiza Meneguci Moreira FrancoLaboratório de Epidemiologia de Malformações Congênitas (LEMC), Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil.
Deborah AntunesLaboratório de Genômica Aplicada e Bioinovações, Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil.
Ana Carolina Proença da FonsecaPrograma de Pós-graduação em Biomedicina Translacional, Universidade do Grande Rio/AFYA, Rio de Janeiro, Brazil.
Ana Clara Rodrigues Moreira GomesLaboratório de Epidemiologia de Malformações Congênitas (LEMC), Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil.
Ana Carolina Ramos GuimarãesLaboratório de Genômica Aplicada e Bioinovações, Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil.
Ieda Maria OrioliECLAMC no Departamento de Genética, Laboratório de Malformações Congênitas (LMC), Instituto de Biologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Flavia Martinez de CarvalhoLaboratório de Epidemiologia de Malformações Congênitas (LEMC), Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Orofacial cleft is a congenital anomaly influenced by genetic and environmental factors. Methods: First, an association study was conducted to evaluate the relationship between orofacial clefts and two Results: Three rare heterozygous variants were identified in five probands: two non-synonymous variants (p.(Arg199Gln) and p.(Gly44Ser)) and one synonymous variant p.(His394=). Molecular modeling suggested that p.(Arg199Gln) and p.(Gly44Ser) could locally impact the structural dynamics and glycosylation pattern. Conclusion: These findings show the potential involvement of

Indexed as

adhesion proteinassociation studygenotypingmolecular modelingNECTIN1 proteinorofacial cleftsequence analysis

Identifiers

PMID42657432
PMCPMC13518071

What Socratic 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 Socratic graph.