Varaico: Literature-Extracted Genetic Variants

Gene:CFAP99
Variant:p.D151N
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CFAP99

NM_001193282.4:p.D151N

Associated Papers

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.

Tachibana N et al.

Genes, 2022

35205402 (PubMed )
Supplement: genes-13-00359-s001.zip › Supplementary_Table_S1.pdf
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