Global Variome shared LOVD

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Phenotype #0000318800 Individual ID 00427828 Associated disease RP14 Phenotype details Myopia; Two uncles (maternal side) retinitis pigmentosa, one with variant TULP1 NM_003322.6 c.1082G>A p.(Arg361Gln) in homozygous state Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-12-15 12:30:09 +01:00 (CET) Date last edited 2022-12-16 11:50:00 +01:00 (CET)

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