Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.H995Y
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CEP290

NM_025114.4:p.H995Y

Associated Papers

The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort.

Sather R et al.

International Journal of Molecular Sciences, 2024

38279252 (PubMed )
Supplement: ijms-25-01253-s001.zip › ijms-2800734-supplementary.pdf

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K et al.

Scientific Reports, 2018

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