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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.F68C

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GJB1

NM_000166.6:p.F68C

hg38:chrX:71223910 T>G

Associated Papers

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

37284795 (PubMed )

Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf

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