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Article

Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity.

American journal of medical genetics. Part A - 1 May 2014

Casci Ian, Accousti William, Lacassie Yves

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24648374
DOI: 10.1002/ajmg.a.36430

Genes

TRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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