Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.S1555F
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COL4A4

NM_000092.5:p.S1555F

Associated Papers

Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria.

Wu J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
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