Varaico: Literature-Extracted Genetic Variants

Gene:PCSK4
Variant:p.P586L
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PCSK4

NM_017573.5:p.P586L

Associated Papers

A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Guzmán-Jiménez A et al.

Human Reproduction Open, 2024

39678461 (PubMed )
Supplement: hoae069_supplementary_data.zip › supplementary_tables.xlsx › S11

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 762.297
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