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Article

A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.

American journal of medical genetics. Part A - 1 Apr 2013

Chung Brian H Y, Luk Ho-ming, Lo Ivan F M, Lam Stephen T S, Li Raymond H W

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Share to Abnormalities, Multiple
Share to Amino Acid Substitution
Share to Collagen Type II
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23495189
DOI: 10.1002/ajmg.a.35793

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