Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.V261A
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CLN8

NM_018941.4:p.V261A

Associated Papers

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.

Baltar F et al.

Frontiers in Pediatrics, 2024

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