Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.G54D
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CALHM3

NM_001129742.2:p.G54D

Associated Papers

Compound heterozygous mutations in the SSPOP gene lead to epilepsy and developmental disorders.

Cai A et al.

Brain : a Journal of Neurology, 2025

Role of ClpP in the Biogenesis and Degradation of RuBisCO and ATP Synthase in Chlamydomonas reinhardtii.

Majeran W et al.

Plants (basel, Switzerland), 2019

MBL2 genotypes and their associations with MBL levels and NICU morbidity in a cohort of Greek neonates.

Speletas M et al.

Journal of Immunology Research, 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."