Varaico: Literature-Extracted Genetic Variants

Gene:TMEM43
Variant:p.L68P
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TMEM43

NM_024334.3:p.L68P

Associated Papers

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Priolo M et al.

Genes, 2022

35627274 (PubMed )
Supplement: genes-13-00889-s001.zip › genes-1700576-supplementary.pdf
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