Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.I107I
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GJB2

NM_004004.6:p.I107I

Associated Papers

RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.

Washington C et al.

Clinical Case Reports, 2023

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