Varaico: Literature-Extracted Genetic Variants

Gene:JAM3
Variant:p.R108K
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JAM3

NM_032801.5:p.R108K

Associated Papers

Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

Schottlaender LV et al.

American Journal of Human Genetics, 2020

32142645 (PubMed )
Supplement: mmc4.pdf
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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."