Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.L302_F303Splc
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CLN3

NM_001042432.2:p.L302_F303Splc

Associated Papers

Concurrent Preimplantation Genetic Testing and Competence Assessment of Human Embryos by Transcriptome Sequencing.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

38900059 (PubMed )
Supplement: ADVS-11-2309817-s002.xlsx › Table_S5

Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes.

Zhang X et al.

Molecular Vision, 2024

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