Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
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Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
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Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
description
article
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im November 2015 veröffentlicher wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в лютому 2016
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ലേഖനം
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name
Homozygous missense mutation i ...... onsanguineous Pakistani family
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Homozygous missense mutation i ...... onsanguineous Pakistani family
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type
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Homozygous missense mutation i ...... onsanguineous Pakistani family
@en
Homozygous missense mutation i ...... onsanguineous Pakistani family
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Homozygous missense mutation i ...... onsanguineous Pakistani family
@en
Homozygous missense mutation i ...... onsanguineous Pakistani family
@nl
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Homozygous missense mutation i ...... onsanguineous Pakistani family
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P2093
Christian Thiel
Gudrun A Rappold
Muhammad Aslamkhan
Nagarajan Paramasivam
Rafiullah Rafiullah
Simone Berkel
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10.1136/JMEDGENET-2015-103179
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P577
2015-11-13T00:00:00Z