Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.V556M
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MPDZ

NM_001378778.1:p.V556M

Associated Papers

Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.

Maggi J et al.

International Journal of Molecular Sciences, 2024

38928247 (PubMed )
Supplement: ijms-25-06540-s001.zip › Manuscript_WGS_Table_S3.pdf
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