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Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients

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Published in:Molecular Genetics & Genomic Medicine
Format: Online Article RSS Article
Published: 2026
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container_title Molecular Genetics & Genomic Medicine
description
discipline_display Life Sciences & Biology
discipline_facet Life Sciences & Biology
format Online Article
RSS Article
genre Journal Article
id rss_article:46079
institution FRELIP
journal_source_facet Molecular Genetics & Genomic Medicine
publishDate 2026
publishDateSort 2026
record_format rss_article
spellingShingle Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
— — — — — — Genetics
Biological Sciences
Life Sciences & Biology
sub_discipline_display Biological Sciences
sub_discipline_facet Biological Sciences
subject_display — — — — — — Genetics
Biological Sciences
Life Sciences & Biology
— — — — — — Genetics
Biological Sciences
Life Sciences & Biology
subject_facet — — — — — — Genetics
Biological Sciences
Life Sciences & Biology
title Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
title_auth Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
title_full Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
title_fullStr Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
title_full_unstemmed Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
title_short Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
title_sort pedigree and functional analysis of two cryptic otc variants causing ornithine transcarbamylase deficiency in two unrelated chinese male patients
topic — — — — — — Genetics
Biological Sciences
Life Sciences & Biology
url https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70223?af=R