Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

Brünger, Tobias; Ivaniuk, Alina; Pérez Palma, Eduardo; Montanucci, Ludovica; Cohen, Stacey; Smith, Lacey; Parthasarathy, Shridhar; Helbig, Ingo; Nothnagel, Michael; May, Patrick; Lal, Dennis

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Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

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Conserved missense variant pathogenicity and correlated phenotypes across.pdf (1.87 MB)

Date

2025

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Article

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Artículos Medicina y Ciencias de la Salud

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Authors

Brünger, Tobias

Ivaniuk, Alina

Pérez Palma, Eduardo

Montanucci, Ludovica

Cohen, Stacey

Smith, Lacey

Parthasarathy, Shridhar

Helbig, Ingo

Nothnagel, Michael

May, Patrick

item.page.doiurl

https://doi.org/10.1186/s13059-025-03663-x

URI

https://hdl.handle.net/11447/11023

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Acceso Abierto

Abstract

Background: The majority of missense variants in clinical genetic tests are classified as variants of uncertain significance. Prior research shows that the deleterious effects and the subsequent molec...

Citation

Brünger T, Ivaniuk A, Pérez-Palma E, Montanucci L, Cohen S, Smith L, Parthasarathy S, Helbig I, Nothnagel M, May P, Lal D. Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes. Genome Biol. 2025 Jul 7;26(1):197. doi: 10.1186/s13059-025-03663-x.

Keywords

ACMG , Genetics , Missense , Sodium channel , Variant classification

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