Varaico: Literature-Extracted Genetic Variants

Gene:SNX10
Variant:p.H37_T38Splc
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SNX10

NM_013322.3:p.H37_T38Splc

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

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."