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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM17

Variant:p.L122insFs

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TMEM17

NM_198276.3:p.L122insFs

hg38:chr2:62501439 G>GT

Associated Papers

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Pardo LM et al.

Clinical Genetics, 2025

41054827 (PubMed )

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