Varaico: Literature-Extracted Genetic Variants

Gene:SNX10
Variant:p.V71Splc
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SNX10

NM_013322.3:p.V71Splc

Associated Papers

Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.

Živković JM et al.

Dna and Cell Biology, 2025

Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.

Nadyrshina DD et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

The molecular structure and function of sorting nexin 10 in skeletal disorders, cancers, and other pathological conditions.

Xu J et al.

Journal of Cellular Physiology, 2021

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

Genetics of Osteopetrosis.

Palagano E et al.

Current Osteoporosis Reports, 2018

Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.

Xu M et al.

Stem Cell Research, 2017

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Stattin EL et al.

Scientific Reports, 2017

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

Pangrazio A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013

Snx10: a newly identified locus associated with human osteopetrosis.

Ye L et al.

Ibms Bonekey, 2013

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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."