P10.016.D  Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy

R Harkness; J McDermott; K Metcalfe; W Macken; A Sabir; S Santra; J Urquhart; L Demain; R Maroofian; M Zamani; C Record; W Yue; HJ Byers; R Pitceathly; R Taylor; S Banka; MM Reilly; R O'Keefe; W Newman

P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy

R Harkness, J McDermott, K Metcalfe, W Macken, A Sabir, S Santra, J Urquhart, L Demain, R Maroofian, M Zamani, C Record, W Yue, HJ Byers, R Pitceathly, R Taylor, S Banka, MM Reilly, R O'Keefe, W Newman

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Pages (from-to)	483
Number of pages	1
Journal	European Journal of Human Genetics
Volume	32
Issue number	Supplement 1
Publication status	Published - 8 Jan 2024

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https://www.nature.com/articles/s41431-023-01482-x#Sec696

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Harkness, R., McDermott, J., Metcalfe, K., Macken, W., Sabir, A., Santra, S., Urquhart, J., Demain, L., Maroofian, R., Zamani, M., Record, C., Yue, W., Byers, HJ., Pitceathly, R., Taylor, R., Banka, S., Reilly, MM., O'Keefe, R., & Newman, W. (2024). P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy. European Journal of Human Genetics, 32(Supplement 1), 483. https://www.nature.com/articles/s41431-023-01482-x#Sec696

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title = "P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy",

author = "R Harkness and J McDermott and K Metcalfe and W Macken and A Sabir and S Santra and J Urquhart and L Demain and R Maroofian and M Zamani and C Record and W Yue and HJ Byers and R Pitceathly and R Taylor and S Banka and MM Reilly and R O'Keefe and W Newman",

year = "2024",

month = jan,

day = "8",

language = "English",

volume = "32",

pages = "483",

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Harkness, R, McDermott, J, Metcalfe, K, Macken, W, Sabir, A, Santra, S, Urquhart, J, Demain, L, Maroofian, R, Zamani, M, Record, C, Yue, W, Byers, HJ, Pitceathly, R, Taylor, R, Banka, S, Reilly, MM, O'Keefe, R & Newman, W 2024, 'P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy', European Journal of Human Genetics, vol. 32, no. Supplement 1, pp. 483. <https://www.nature.com/articles/s41431-023-01482-x#Sec696>

TY - JOUR

T1 - P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy

AU - Harkness, R

AU - McDermott, J

AU - Metcalfe, K

AU - Macken, W

AU - Sabir, A

AU - Santra, S

AU - Urquhart, J

AU - Demain, L

AU - Maroofian, R

AU - Zamani, M

AU - Record, C

AU - Yue, W

AU - Byers, HJ

AU - Pitceathly, R

AU - Taylor, R

AU - Banka, S

AU - Reilly, MM

AU - O'Keefe, R

AU - Newman, W

PY - 2024/1/8

Y1 - 2024/1/8

UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001147414902357&DestLinkType=FullRecord&DestApp=WOS_CPL

M3 - Meeting Abstract

SN - 1018-4813

VL - 32

SP - 483

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Supplement 1

ER -

P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy

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