Varaico: Literature-Extracted Genetic Variants

Gene:TOGARAM1
Variant:p.R368W
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TOGARAM1

NM_001308120.2:p.R368W

Associated Papers

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.

Abualsaud D et al.

American Journal of Medical Genetics. Part A, 2021

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy.

Morbidoni V et al.

Journal of Medical Genetics, 2021

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Latour BL et al.

The Journal of Clinical Investigation, 2020

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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."