Varaico: Literature-Extracted Genetic Variants

Gene:GCM2
Variant:p.A393_Q395ins1
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GCM2

NM_004752.4:p.A393_Q395ins1

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3

Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism.

Guan B et al.

Journal of the Endocrine Society, 2017

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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."