Консенсус по клиническим эффектам генетических вариантов
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2 entries on 1 page. Showing entries 1 - 2.
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Symbol
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
CFTR
cystic fibrosis transmembrane conductance regulator
7
q31.2
1
225
223
2018-05-07
CF, CFTR-related
PAH
phenylalanine hydroxylase
12
q23.2
1
0
0
N/A
PKU
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LOVD v.3.0
Build 21
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Leiden University Medical Center