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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BEST1

Variant:p.L197_G198del2

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BEST1

NM_004183.4:p.L197_G198del2

hg38:chr11:61956950 GCTTGGA>G

Associated Papers

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.

Baz DS et al.

Frontiers in Pediatrics, 2024

38716412 (PubMed )

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