Varaico: Literature-Extracted Genetic Variants

Gene:CEP164
Variant:p.P1377L
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CEP164

NM_014956.5:p.P1377L

Associated Papers

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Kolvenbach CM et al.

American Journal of Human Genetics, 2019

31051115 (PubMed )
Supplement: mmc1.pdf
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