High-throughput functional characterization of variants of uncertain significance and systematic analysis of tandem repeat expansions to reveal hidden genetic factors in neurodegenerative disorders

Beatrice Piola

doi:10.20373/uniupo/openthesis/215844

High-throughput functional characterization of variants of uncertain significance and systematic analysis of tandem repeat expansions to reveal hidden genetic factors in neurodegenerative disorders

Beatrice Piola

Research output: Types of Thesis › Doctoral Thesis

Original language	English
Awarding Institution	Universita' degli Studi del Piemonte Orientale "Amedeo Avogadro"
Supervisors/Advisors	CORRADO, Lucia, Supervisor
DOIs	https://doi.org/10.20373/uniupo/openthesis/215844
Publication status	Published - 2025
Externally published	Yes

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10.20373/uniupo/openthesis/215844

https://hdl.handle.net/11579/215844

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@phdthesis{f4c2200ce74e4dd7b4a18e196794c160,

title = "High-throughput functional characterization of variants of uncertain significance and systematic analysis of tandem repeat expansions to reveal hidden genetic factors in neurodegenerative disorders",

author = "Beatrice Piola",

year = "2025",

doi = "10.20373/uniupo/openthesis/215844",

language = "English",

school = "Universita' degli Studi del Piemonte Orientale {"}Amedeo Avogadro{"}",

}

TY - BOOK

T1 - High-throughput functional characterization of variants of uncertain significance and systematic analysis of tandem repeat expansions to reveal hidden genetic factors in neurodegenerative disorders

AU - Piola, Beatrice

PY - 2025

Y1 - 2025

UR - https://iris.uniupo.it/handle/11579/215844

U2 - 10.20373/uniupo/openthesis/215844

DO - 10.20373/uniupo/openthesis/215844

M3 - Doctoral Thesis

ER -

High-throughput functional characterization of variants of uncertain significance and systematic analysis of tandem repeat expansions to reveal hidden genetic factors in neurodegenerative disorders

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