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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP164

Variant:p.P580S

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CEP164

NM_014956.5:p.P580S

hg38:chr11:117387216 C>T

Associated Papers

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Devlin LA et al.

Clinical Genetics, 2023

36273371 (PubMed )

Supplement: CGE-103-330-s002.docx

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