Varaico: Literature-Extracted Genetic Variants

Gene:NBPF15
Variant:p.Q533L
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NBPF15

NM_001385408.1:p.Q533L

Associated Papers

A Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.

Wentworth K et al.

Case Reports in Endocrinology, 2016

27579188 (PubMed )
Supplement: 2691385.f1.xlsx › Sheet1

Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Liu Y et al.

Genetics and Molecular Biology, 0

28590501 (PubMed )
Supplement: 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
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