Varaico: Literature-Extracted Genetic Variants

Gene:CNGA1
Variant:p.L85fs
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CNGA1

NM_001379270.1:p.L85fs

Associated Papers

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.

Fan X et al.

Scientific Reports, 2025

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

[Connexin gene mutation and disease].

Huo ZH et al.

Sheng Li Ke Xue Jin Zhan [progress in Physiology], 1999

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