Varaico: Literature-Extracted Genetic Variants

Gene:BLTP2
Variant:p.P725L
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BLTP2

NM_014680.5:p.P725L

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

Awadalla MS et al.

Jama Ophthalmology, 2014

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