Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.S1772G
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CPLANE1

NM_001384732.1:p.S1772G

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

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY et al.

European Journal of Human Genetics : Ejhg, 2016

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