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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP4

Variant:p.F1210L

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NPHP4

NM_015102.5:p.F1210L

hg38:chr1:5866387 A>T

Associated Papers

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

Esteve-Garcia A et al.

Frontiers in Genetics, 2024

38450199 (PubMed )

Supplement: DataSheet1.pdf

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