Varaico: Literature-Extracted Genetic Variants

Gene:APPL1
Variant:p.Q71_R72Splc
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APPL1

NM_012096.3:p.Q71_R72Splc

Associated Papers

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
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