Varaico: Literature-Extracted Genetic Variants

Gene:DENND5A
Variant:p.K850fs
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DENND5A

NM_015213.4:p.K850fs

Associated Papers

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Banks E et al.

Nature Communications, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Banks E et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.

Yang M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.

Isik E et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Froukh T et al.

Clinical Genetics, 2020

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

Han C et al.

American Journal of Human Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."