Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.Q750_E751Splc
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CLCN7

NM_001287.6:p.Q750_E751Splc

Associated Papers

Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.

Wang Z et al.

Frontiers in Endocrinology, 2022

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Yu T et al.

Molecular Medicine Reports, 2014

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Pangrazio A et al.

Human Mutation, 2010

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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."