Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Liangfeng Yao"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
This study report a novel missense variant in the cyclic nucleotide-gated channel 3 (CNGA3) gene identified by targeted gene panel sequencing approach in a Chinese family with achromatopsia. The proband, a 24-year-old female, with normal intelligence
Externí odkaz:
https://doaj.org/article/8d75d27d5c4c4817a47f1745cb556c31