GENETIC ENCYCLOPEDIA
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disease: Neonatal severe hyperparathyroidism

id5290
nameNeonatal severe hyperparathyroidism
variant-disease NM_000388.4(CASR):c.680G>T (p.Arg227Leu) AND Neonatal severe hyperparathyroidism
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) AND Neonatal severe hyperparathyroidism
NM_000388.4(CASR):c.2955C>T (p.Asn985=) AND Neonatal severe hyperparathyroidism
NM_000388.4(CASR):c.-154T>A AND Neonatal severe hyperparathyroidism
NM_000388.4(CASR):c.*60A>T AND Neonatal severe hyperparathyroidism
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