Varaico: Literature-Extracted Genetic Variants

Gene:PREPL
Variant:p.K532R
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PREPL

NM_001171613.2:p.K532R

Associated Papers

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Kaplanis J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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