Varaico: Literature-Extracted Genetic Variants

Gene:POC5
Variant:p.W296*
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POC5

NM_001099271.2:p.W296*

Associated Papers

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Vulto-van Silfhout AT et al.

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

Diverse monogenic subforms of human spermatogenic failure.

Nagirnaja L et al.

Nature Communications, 2022

36572685 (PubMed )
Supplement: 41467_2022_35661_MOESM3_ESM.xlsx › Supplementary_Data_1
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