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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLAMF7

Variant:p.K27R

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SLAMF7

NM_021181.5:p.K27R

hg38:chr1:160748218 A>G

Associated Papers

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.

Romano F et al.

Frontiers in Pediatrics, 2023

38178912 (PubMed )

Supplement: Datasheet1.pdf

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