Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3IP1
Variant:p.K305_S306Splc
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TRAF3IP1

NM_015650.4:p.K305_S306Splc

Associated Papers

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Peter VG et al.

Pnas Nexus, 2023

36909829 (PubMed )
Supplement: pgad043_supplementary_data.zip › PNASNEXUS-PNASNEXUS-2022-00861-s02.xlsx › Table
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