Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.

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Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.

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Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.

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Novel NTRK1 mutations associat ...... erified by functional studies.

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Novel NTRK1 mutations associat ...... erified by functional studies.

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Novel NTRK1 mutations associat ...... erified by functional studies.

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Novel NTRK1 mutations associat ...... erified by functional studies.

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Gwang Hyeon Eom

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Myeong-Kyu Kim

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Somy Yoon

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Sung Taek Jung

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Tai-Seung Nam

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Wenting Li

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Cell signaling by receptor tyrosine kinases

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings.

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Modulation of Melanogenesis by Heme Oxygenase-1 via p53 in Normal Human Melanocytes

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine.

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92-99

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scholarly article

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10.1111/JNS.12205

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Seok-Yong Choi

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2017-02-08T00:00:00Z

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28177573

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congenital insensitivity to pain with anhidrosis

birth defect

Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.

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P2860

P2860

Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.

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P1476

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