Varaico: Literature-Extracted Genetic Variants

Gene:CPAP
Variant:p.P55A
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CPAP

NM_018451.5:p.P55A

Associated Papers

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Preliminary identification of pathogenic variants in an Afro-Colombian Raizal family with risk factors for glaucoma.

Castillo-Plata H et al.

Colombia Medica (cali, Colombia), 0

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