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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRRT3

Variant:p.E394K

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PRRT3

NM_207351.5:p.E394K

hg38:chr3:9947993 C>T

Associated Papers

A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.

Garg A et al.

Journal of the Endocrine Society, 2020

32803092 (PubMed )

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