ABCC7 p.Gln372*
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PMID: 23276700
[PubMed]
Krenkova P et al: "Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations."
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48
[125CNT]+[223CNT] S42F/R75X# Ex2/Ex3 1 0.08 44. c.164+1GNA 296+1GNA In2 1 0.08 45. c.274GNA E92K# Ex4 1 0.08 46. c.349CNT R117C*# Ex4 1 0.08 47. c.509GNA R170H Ex5 1 0.08 48. c.533GNA G178E Ex5 1 0.08 49. c.579+1GNT 711+1GNT*# In5 1 0.08 50. c.902ANG Y301C Ex7 1 0.08 51. c.1040GNA R347H*# Ex7 1 0.08 52. c.1114CNT Q372X Ex7 1 0.08 53. c.1117-1GNA 1249-1GNA In7 1 0.08 54. c.1209+1GNA 1341+1GNA# In8 1 0.08 55. c.1519_1521delATC I507del*# Ex10 1 0.08 56. c.1654CNT Q552X# Ex11 1 0.08 57. c.1673TNC L558S# Ex11 1 0.08 58. c.1679+1GNC 1811+1GNC In11 1 0.08 59. c.1687TNC Y563H Ex12 1 0.08 60. c.1753GNT E585X# Ex12 1 0.08 61. c.1766+1GNC 1898+1GNC In12 1 0.08 62. c.2044delA 2176delA Ex13 1 0.08 63. c.2051_2052delAAinsG 2183delAANG# Ex13 1 0.08 64. c.2052delA 2184delA*# Ex13 1 0.08 3.
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ABCC7 p.Gln372* 23276700:48:315
status: NEW