Varaico: Literature-Extracted Genetic Variants

Gene:SNX10
Variant:p.R95H
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SNX10

NM_013322.3:p.R95H

Associated Papers

Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis.

Elson A et al.

Frontiers in Cell and Developmental Biology, 2021

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.

Mayer AK et al.

European Journal of Human Genetics : Ejhg, 2020

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

Shamriz O et al.

Clinical Genetics, 2017

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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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."