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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Int J Mol Sci. 2022 Apr 13;23(8):4294. doi: 10.3390/ijms23084294.
Int J Mol Sci. 2022.
PMID: 35457110
Free PMC article.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM.
Smirnov V, et al.
Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410.
Int J Mol Sci. 2021.
PMID: 34203883
Free PMC article.
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