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Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases

2026-03-27

Abstract excerpt

<h4>Background</h4> Diagnosing the over 700 known rare bone diseases (RBDs) is inherently challenging and often requires extensive time and multiple clinical visits. Effective treatment, particularly for RBDs with approved therapies, depends on early and precise identification of the specific RBD type. Image recognition artificial intelligence (AI) has the potential to significantly enhance diagnostic processes a...

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Literature Corpus work
f6d24def-9441-5a65-a901-409a49ee59ae
DOI
10.64898/2026.03.25.26349289
Open publication

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Bone2Gene: Next-generation Phenotyping of Rare Bone DiseasesDOI 10.64898/2026.03.25.26349289
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