Консенсус по клиническим эффектам генетических вариантов
LOVD v.3.0 Build 21 [
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2 entries on 1 page. Showing entries 1 - 2.
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ID
Chr
Gene ID
Name
NCBI ID
NCBI Protein ID
Variants
00000001
7
CFTR
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
NM_000492.3
NP_000483.3
225
00000005
12
PAH
phenylalanine hydroxylase
NM_000277.1
NP_000268.1
0
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LOVD v.3.0
Build 21
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Leiden University Medical Center