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Article

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

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

Li Bing, Krakow Deborah, Nickerson Deborah A, Bamshad Michael J, Chang Yong, Lachman Ralph S, Yilmaz Alev, Kayserili Hülya, Cohn Daniel H

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Share to Mutagenesis, Insertional
Share to Osteochondrodysplasias
Share to Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phosphoric Monoester Hydrolases

Share to Protein Stability

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Source

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Identifiers

PMID: 24953221
DOI: 10.1002/ajmg.a.36640
PMCID: PMC4134718

Genes

INPPL1

Provenance

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

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