Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.M3393delFs
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USH2A

NM_206933.4:p.M3393delFs

Associated Papers

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

Fan X et al.

Scientific Reports, 2025

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.

Li W et al.

Frontiers in Genetics, 2022

36110214 (PubMed )
Supplement: Table1.XLSX › 768_distinct_USH2A_variants

[Connexin gene mutation and disease].

Huo ZH et al.

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

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