Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.G45R
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KRT75

NM_004693.3:p.G45R

Associated Papers

A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.

Borbaran Bravo N et al.

Blood, 2025

39642330 (PubMed )
Supplement: BLOOD_BLD-2023-022576-mmc5.xlsx › Tabelle1
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