Varaico: Literature-Extracted Genetic Variants

Gene:SAG
Variant:p.K106_L111del6
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SAG

NM_000541.5:p.K106_L111del6

Associated Papers

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Lenassi E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."