Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.A405P
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TULP1

NM_003322.6:p.A405P

Associated Papers

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.

Bodenbender JP et al.

International Journal of Molecular Sciences, 2023

36769033 (PubMed )
Supplement: ijms-24-02709-s001.zip › Supplementary_Table_S1.pdf

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Ge Z et al.

Scientific Reports, 2015

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