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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR2C

Variant:p.V182A

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POLR2C

NM_032940.3:p.V182A

hg38:chr16:57470066 T>C

Associated Papers

A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report.

Bitarafan F et al.

European Journal of Clinical Investigation, 2023

36576366 (PubMed )

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