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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNAS

Variant:p.Y190D

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GNAS

NM_000516.7:p.Y190D

hg38:chr20:58909199 T>G

Associated Papers

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC et al.

Human Mutation, 2015

25219572 (PubMed )

Supplement: humu0036-0011-sd1.pdf

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