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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM216

Variant:p.T78fs

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TMEM216

NM_001173990.3:p.T78fs

hg38:chr11:61397776 ACA>N

Associated Papers

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Valente EM et al.

Nature Genetics, 2010

20512146 (PubMed )

Supplement: NIHMS30246-supplement-1.pdf

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