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Literature for OMIM 241200: BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2
Xenbase Articles:
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Organization of the pronephric kidney revealed by large-scale gene expression mapping.,
Raciti D,Reggiani L,Geffers L,Jiang Q,Bacchion F,Clements D,Tindal C,Davidson DR,Kaissling B,Brändli AW,Subrizi AE,
Genome Biol. January 1, 2008; 9(5):1474-760X.
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Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels., Lee CH,Lee CH,Lee CH,Huang PT,Lou KL,Liou HH, J Mol Graph Model. October 1, 2008; 27(3):1873-4243. |
Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.,
Srivastava S,Edwards N,Hynes AM,Wood K,Al-Hamed M,Reaich D,Moochhala SH,Welling PA,Sayer JA,Li D,Wroe AC,
Physiol Rep. November 1, 2013; 1(6):2051-817X.
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State-dependent network connectivity determines gating in a K+ channel.,
Bollepalli MK,Fowler PW,Rapedius M,Shang L,Sansom MS,Tucker SJ,Baukrowitz T,
Structure. July 8, 2014; 22(7):1878-4186.
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