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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM67

Variant:p.C246Y

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TMEM67

NM_153704.6:p.C246Y

hg38:chr8:93780615 G>A

Associated Papers

Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.

Stembalska A et al.

Genes, 2021

34356094 (PubMed )

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