Missense but mis-spliced: germline TP53 variant c.671A &gt; C (p.E224A) and the path from uncertainty to pathogenicity

Irena Velkova; Serena Cappato; Daniela Rivera; Ferruccio Romano; Deborah Schönneger; Renata Bocciardi; Anna Reymer; Pierre Hainaut; Patrizia De Marco; Viviana Gismondi; Gabriella Cirmena; Ludovica Menta; Marzia Ognibene; Alberto Garaventa; Carla Manzitti; Samuele Brugnara; Yari Ciribilli; Alessandra Bisio; Elisa Marcaccini; Paolo Malatesta; Francesca Faravelli; Paola Menichini; Valeria Capra; Paola Monti

doi:10.1038/s41598-026-62400-x

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity

I Irena Velkova S Serena Cappato D Daniela Rivera F Ferruccio Romano D Deborah Schönneger R Renata Bocciardi A Anna Reymer P Pierre Hainaut P Patrizia De Marco V Viviana Gismondi G Gabriella Cirmena L Ludovica Menta M Marzia Ognibene A Alberto Garaventa C Carla Manzitti S Samuele Brugnara Y Yari Ciribilli A Alessandra Bisio E Elisa Marcaccini P Paolo Malatesta F Francesca Faravelli P Paola Menichini V Valeria Capra P Paola Monti

View Original

APA MLA Chicago BibTeX RIS

Article Details

Journal Scientific Reports

Volume / Issue Vol. 1, Issue 1

Published July 16, 2026

DOI 10.1038/s41598-026-62400-x

ISSN 2045-2322

Publisher Nature Portfolio

Journal Info

Scientific Reports

Nature Portfolio

ISSN: 2045-2322 Open Access Life Sciences

Authors (24)

I

Irena Velkova

S

Serena Cappato

D

Daniela Rivera

F

Ferruccio Romano

D

Deborah Schönneger

R

Renata Bocciardi

A

Anna Reymer

P

Pierre Hainaut

P

Patrizia De Marco

V

Viviana Gismondi

G

Gabriella Cirmena

L

Ludovica Menta

M

Marzia Ognibene

A

Alberto Garaventa

C

Carla Manzitti

S

Samuele Brugnara

Y

Yari Ciribilli

A

Alessandra Bisio

E

Elisa Marcaccini

P

Paolo Malatesta

F

Francesca Faravelli

P

Paola Menichini

V

Valeria Capra

P

Paola Monti

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity

Article Details

Journal Info

Authors (24)

Related Articles from this Journal

AI models of unstable flow exhibit hallucination

The MCAA-YOLO + XPBI integrated model provides a hybrid intelligent measurement method for predicting the body weight of Hu sheep

Application of iron nano-biofertilizers as a sustainable approach to enhance growth and micronutrient uptake in soybean

Adolescents’ status-dependent public and private conformity to prosocial and antisocial decisions in a public goods game

An explainable hierarchical capsule network framework for supporting expert sensory evaluation of herbal medicines with natural language generation

Missense but mis-spliced: germline TP53 variant c.671A &gt; C (p.E224A) and the path from uncertainty to pathogenicity

Article Details

Journal Info

Authors (24)

Related Articles from this Journal

AI models of unstable flow exhibit hallucination

The MCAA-YOLO + XPBI integrated model provides a hybrid intelligent measurement method for predicting the body weight of Hu sheep

Application of iron nano-biofertilizers as a sustainable approach to enhance growth and micronutrient uptake in soybean

Adolescents’ status-dependent public and private conformity to prosocial and antisocial decisions in a public goods game

An explainable hierarchical capsule network framework for supporting expert sensory evaluation of herbal medicines with natural language generation

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity