Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D1
Variant:p.M1L
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TBC1D1

NM_001396959.1:p.M1L

Associated Papers

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
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