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leber congenital amaurosis/paraplegia

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NakalaMajaribio ya klinikiHati miliki
1 matokeo

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

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Ingia / Ingia
Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is the target of toxic organophosphates that
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* Habari zote zinategemea utafiti wa kisayansi uliochapishwa

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