Varaico: Literature-Extracted Genetic Variants

Gene:FAM161A
Variant:p.A474delFs
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FAM161A

NM_001201543.2:p.A474delFs

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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