Diseases associated with calcium-sensing receptor

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Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.Hypercalcemia: a consultant's approach.

P2860

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P2860

Diseases associated with calcium-sensing receptor

Item

http://www.wikidata.org/entity/Q39103301

description

2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Diseases associated with calcium-sensing receptor

@en

Diseases associated with calcium-sensing receptor.

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type

Item

label

Diseases associated with calcium-sensing receptor

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Diseases associated with calcium-sensing receptor.

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prefLabel

Diseases associated with calcium-sensing receptor

@en

Diseases associated with calcium-sensing receptor.

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P1476

Diseases associated with calcium-sensing receptor

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P2093

A Jannin

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C Vahe

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K Benomar

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L Coppin

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S Espiard

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P275

Creative Commons Attribution 4.0 International

P2860

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia

Calcium-sensing receptor: A new target for therapy of diarrhea

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts

Hyperplasia in glands with hormone excess

The calcium-sensing receptor and the hallmarks of cancer

Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor

Calcium-Sensing Receptor Gene: Regulation of Expression

A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia

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s13023-017-0570-z

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scholarly article

review article

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10.1186/S13023-017-0570-Z

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Marie-Christine Vantyghem

Marie-Françoise Odou

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2017-01-25T00:00:00Z

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1074197499

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genetic disease

cell surface receptor

membrane proteins

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5264458

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Diseases associated with calcium-sensing receptor

about

P2860

P2860

Diseases associated with calcium-sensing receptor

description

name

type

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P1433

P1476

P2093

P275

P2860

P2888

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P31

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P478

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P6179

P698

P921

P932

P356

P1433

P1476

P2093

P275

P2860

P2888

P304

P31

P356

P433

P478

P50

P5008

P577

P6179

P698

P921

P932